Sweet and sour: an update on classic galactosemia. (Q33563888)

28 July 2017

6 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

28 September 2019

Sweet and sour: an update on classic galactosemia. (English)

1 reference

28 July 2017

6 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

28 September 2019

1 reference

28 September 2019

João B Vicente

3

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Isabel Rivera

object named as

Isabel Rivera

series ordinal

4

0 references

author name string

Ana I Coelho

series ordinal

1

1 reference

28 July 2017

M Estela Rubio-Gozalbo

series ordinal

2

1 reference

28 July 2017

language of work or name

1 reference

9 March 2017

1 reference

Journal of Inherited Metabolic Disease

28 July 2017

1 May 2017

6 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

28 September 2019

7 references

28 July 2017

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

28 September 2019

40

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

325-342

1 reference

Creative Commons Attribution 4.0 International

28 July 2017

copyright license

6 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

on focus list of Wikimedia project

28 September 2019

copyright status

copyrighted

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ScienceSource

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cites work

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Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

21 June 2018

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The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis

21 June 2018

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Affected functional networks associated with sentence production in classic galactosemia.

21 June 2018

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Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model.

21 June 2018

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Functional and structural impact of the most prevalent missense mutations in classic galactosemia

21 June 2018

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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging.

21 June 2018

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Functional correction by antisense therapy of a splicing mutation in the GALT gene

21 June 2018

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A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia

21 June 2018

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Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model

21 June 2018

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Purple sweet potato colour--a potential therapy for galactosemia?

21 June 2018

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Literature review and outcome of classic galactosemia diagnosed in the neonatal period

21 June 2018

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The unfolded protein response has a protective role in yeast models of classic galactosemia

21 June 2018

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Fertility preservation in female classic galactosemia patients

21 June 2018

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Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia

21 June 2018

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A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

21 June 2018

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Modifiers of ovarian function in girls and women with classic galactosemia.

21 June 2018

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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

21 June 2018

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Motor and speech disorders in classic galactosemia

21 June 2018

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Galactosemia screening with low false-positive recall rate: the Swedish experience

21 June 2018

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From mind to mouth: event related potentials of sentence production in classic galactosemia

21 June 2018

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21 June 2018

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N- and O-linked glycosylation of total plasma glycoproteins in galactosemia

21 June 2018

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Galactosemia: when is it a newborn screening emergency?

21 June 2018

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Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

21 June 2018

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Structure-activity analysis and cell-based optimization of human galactokinase inhibitors

21 June 2018

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21 June 2018

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The adult galactosemic phenotype

21 June 2018

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Psychosocial developmental milestones in men with classic galactosemia

21 June 2018

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Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

21 June 2018

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Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

21 June 2018

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Ovarian function in girls and women with GALT-deficiency galactosemia

21 June 2018

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Voice disorders in children with classic galactosemia

21 June 2018

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Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

21 June 2018

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A Drosophila melanogaster model of classic galactosemia

21 June 2018

1 reference

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Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach

21 June 2018

1 reference

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Galactosemia, a single gene disorder with epigenetic consequences

21 June 2018

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Purple sweet potato color alleviates D-galactose-induced brain aging in old mice by promoting survival of neurons via PI3K pathway and inhibiting cytochrome C-mediated apoptosis.

21 June 2018

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Galactose toxicity in animals

21 June 2018

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Gonadal function in male and female patients with classic galactosemia.

21 June 2018

1 reference

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Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

21 June 2018

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Biomarkers of ovarian function in girls and women with classic galactosemia

21 June 2018

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Correlates of language impairment in children with galactosaemia.

21 June 2018

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Galactosemia and amenorrhea in the adolescent

21 June 2018

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High-throughput screening for human galactokinase inhibitors

21 June 2018

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Diagnosis of inherited disorders of galactose metabolism

21 June 2018

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Fertility and impact of pregnancies on the mother and child in classic galactosemia

21 June 2018

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Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)

21 June 2018

1 reference

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Classical galactosaemia revisited.

21 June 2018

1 reference

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Pathophysiology of impaired ovarian function in galactosaemia

21 June 2018

1 reference

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Effect of calcium, vitamins K1 and D3 on bone in galactosemia

21 June 2018

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The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia

21 June 2018

1 reference

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Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

21 June 2018

1 reference

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High tolerance for oral galactose in classical galactosaemia: dietary implications.

21 June 2018

1 reference

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Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.

21 June 2018

1 reference

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Alternative pathways of galactose assimilation: could inverse metabolic engineering provide an alternative to galactosemic patients?

21 June 2018

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Living with classical galactosemia: health-related quality of life consequences.

21 June 2018

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ENZYMATIC EXPRESSION AND GENETIC LINKAGE OF GENES CONTROLLING GALACTOSE UTILIZATION IN SACCHAROMYCES.

21 June 2018

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A case of galactosaemia with the pathological and neuropathological findings

21 June 2018

1 reference

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Identification and characterisation of human aldose 1-epimerase

21 June 2018

1 reference

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Clinical features of galactokinase deficiency:A review of the literature

21 June 2018

1 reference

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Insights into the pathogenesis of galactosemia

21 June 2018

1 reference

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GALT deficiency causes UDP-hexose deficit in human galactosemic cells

21 June 2018

1 reference

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Glucose transporters (GLUT and SGLT): expanded families of sugar transport proteins.

21 June 2018

1 reference

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Galactose-1-phosphate is a regulator of inositol monophosphatase: a fact or a fiction?

21 June 2018

1 reference

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Bone mineral density in patients with classic galactosaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy

21 June 2018

1 reference

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Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase

21 June 2018

1 reference

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Galactose metabolism and ovarian toxicity

21 June 2018

1 reference

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Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

21 June 2018

1 reference

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Urinary galactonate in patients with galactosemia: quantitation by nuclear magnetic resonance spectroscopy

21 June 2018

1 reference

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A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.

21 June 2018

1 reference

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Structural analysis of the H166G site-directed mutant of galactose-1-phosphate uridylyltransferase complexed with either UDP-glucose or UDP-galactose: detailed description of the nucleotide sugar binding site

21 June 2018

1 reference

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Molecular basis for Duarte and Los Angeles variant galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Reproductive effects of maternal metabolic disorders: implications for pediatrics and obstetrics.

21 June 2018

1 reference

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The structure of nucleotidylated histidine-166 of galactose-1-phosphate uridylyltransferase provides insight into phosphoryl group transfer

21 June 2018

1 reference

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A prevalent mutation for galactosemia among black Americans

21 June 2018

1 reference

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The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

A yeast expression system for human galactose-1-phosphate uridylyltransferase

21 June 2018

1 reference

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Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia

21 June 2018

1 reference

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A common mutation associated with the Duarte galactosemia allele

21 June 2018

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The role of polyols in the pathophysiology of hypergalactosemia

21 June 2018

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Galactitol in galactosemia

21 June 2018

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Galactose-1-phosphate in the pathophysiology of galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

A molecular approach to galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Cognitive functioning, neurologic status and brain imaging in classical galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Three-Dimensional Structure of Galactose-1-phosphate Uridylyltransferase from Escherichia coli at 1.8 .ANG. Resolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Molecular characterization of galactosemia (type 1) mutations in Japanese.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Curious neurologic sequelae in galactosemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Regulation of genes controlling synthesis of the galactose pathway enzymes in yeast.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactose-1-phosphate uridylyltransferase: rate studies confirming a uridylyl-enzyme intermediate on the catalytic pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The neuropathology of galactosemia. A histopathological and biochemical study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Computed tomographic demonstration of cerebral edema in a child with galactosemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Deficit of uridine diphosphate galactose in galactosaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactosemia: screening and diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Neurologic complications in galactosemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The human galactose-1-phosphate uridyltransferase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactosemia: evaluation with MR imaging

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The galactosemia network (GalNet).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Structure activity relationships of human galactokinase inhibitors.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

N-glycan abnormalities in children with galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Skeletal health in adult patients with classic galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Living situation, occupation and health-related quality of life in adult patients with classic galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The neuropsychological profile of galactosaemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Purple sweet potato color protects mouse liver against d-galactose-induced apoptosis via inhibiting caspase-3 activation and enhancing PI3K/Akt pathway.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Determination of the lactose and galactose content of cheese for use in the galactosaemia diet.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Outcomes of siblings with classical galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Free galactose content in selected fresh fruits and vegetables and soy beverages

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The endocrine system in treated patients with classical galactosemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Body composition in children with galactosaemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Social outcome in treated individuals with inherited metabolic disorders: UK study

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Urinary galactitol and galactonate quantified by isotope-dilution gas chromatography-mass spectrometry

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Bone metabolism in galactosemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Galactitol and galactonate in red blood cells of galactosemic patients

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Stable-isotope dilution analysis of galactose metabolites in human erythrocytes

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Newborn screening compared to clinical identification of biochemical genetic disorders.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Identification of galactitol and galactonate in red blood cells by gas chromatography/mass spectrometry

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Outcomes analysis of verbal dyspraxia in classic galactosemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The relationship of genotype to cognitive outcome in galactosaemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Significance of metal ions in galactose-1-phosphate uridylyltransferase: an essential structural zinc and a nonessential structural iron

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

The molecular basis of transferase galactosaemia in South African negroids

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Long-term outcome in 134 patients with galactosaemia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Speech and language deficits in early-treated children with galactosemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391384

Molecular characterization of Polish patients with classical galactosaemia

31 October 2018

1 reference

12 December 2020

Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population

1 reference

12 December 2020

Childbearing by a galactosemic woman

1 reference

12 December 2020

Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene

1 reference

12 December 2020

Remarkable differences: the course of life of young adults with galactosaemia and PKU

1 reference

12 December 2020

The biochemical role of glutamine 188 in human galactose-1-phosphate uridyltransferase

1 reference

12 December 2020

Galactose-1-phosphate uridylyltransferase: identification of histidine-164 and histidine-166 as critical residues by site-directed mutagenesis

1 reference

12 December 2020

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation

1 reference

12 December 2020

Fructose and galactose enhance postexercise human liver glycogen synthesis

1 reference

12 December 2020

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia

1 reference

12 December 2020

Functional consequence of substitutions at residue 171 in human galactose-1-phosphate uridylyltransferase

1 reference

12 December 2020

Galactitol in the tissues of a galactosemic child

1 reference

12 December 2020

Defective galactosylation of serum transferrin in galactosemia

1 reference

12 December 2020

Homology Modeling Studies on Human Galactose-1-phosphate Uridylyltransferase and on Its Galactosemia-Related Mutant Q188R Provide an Explanation of Molecular Effects of the Mutation on Homo- and Heterodimers

1 reference

12 December 2020

Fruits and vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia

1 reference

12 December 2020

Normal pregnancy and childbirth in a galactosemic woman

1 reference

12 December 2020

Free galactose content of fresh fruits and strained fruit and vegetable baby foods: more foods to consider for the galactose-restricted diet

1 reference

12 December 2020

Transient kinetics of formation and reaction of the uridylyl-enzyme form of galactose-1-P uridylyltransferase and its Q168R-variant: insight into the molecular basis of galactosemia

1 reference

12 December 2020

Selective screening for neonatal galactosemia: an alternative approach.

1 reference

12 December 2020

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

1 reference

12 December 2020

Clouds over galactosaemia

1 reference

12 December 2020

Normal infant birth in White galactosemic woman

1 reference

12 December 2020

Increased fertility in a woman with classic galactosaemia

1 reference

12 December 2020

Quantitative assessment of whole body galactose metabolism in galactosemic patients

1 reference

12 December 2020

Characterization of the N314D allele of human galactose-1-phosphate uridylyltransferase using a yeast expression system

1 reference

12 December 2020

The lactose content of Mini Babybel and suitability for galactosaemia

1 reference

12 December 2020

A mouse model of galactose-1-phosphate uridyl transferase deficiency

1 reference

12 December 2020

Spontaneous pregnancy in a patient with classical galactosaemia

1 reference

12 December 2020

Formation of Galactose-1-Phosphate from Uridine Diphosphate Galactose in Erythrocytes from Patients with Galactosemia[31]

1 reference

12 December 2020

Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

1 reference

12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

12 December 2020

Galactosemia--to screen or not to screen?

1 reference

12 December 2020

Ovarian failure in galactosemia

1 reference

12 December 2020

Growth in treated classical galactosemia patients

1 reference

12 December 2020

Apparent Galactose Appearance Rate in Human Galactosemia Based on Plasma [13C]Galactose Isotopic Enrichment

1 reference

12 December 2020

Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W

1 reference

12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

12 December 2020

Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Galactose 1-phosphate uridylyltransferase. Isolation of a uridylyl-enzyme intermediate

1 reference

12 December 2020

10.1007/S10545-017-0029-3

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference