What is new in CDG? (Q39292867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

review article

1 reference

title

What is new in CDG? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

Erratum to: What is new in CDG?

20 March 2020

corrigendum / erratum

1 reference

10.1007/S10545-017-0068-9

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1007/S10545-017-0068-9

author

Jaak Jaeken

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

author name string

Romain Péanne

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

8 May 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

20 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

569-586

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

Further Delineation of the ALG9-CDG Phenotype

20 March 2020

cites work

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Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

21 January 2018

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Congenital disorders of glycosylation with emphasis on cerebellar involvement

21 January 2018

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Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

21 January 2018

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Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

21 January 2018

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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

21 January 2018

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Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

21 January 2018

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Genetic defects in dolichol metabolism

21 January 2018

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Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

21 January 2018

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Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function

21 January 2018

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A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach

21 January 2018

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Cohen syndrome is associated with major glycosylation defects

21 January 2018

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Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

21 January 2018

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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

21 January 2018

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

21 January 2018

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Solving glycosylation disorders: fundamental approaches reveal complicated pathways

21 January 2018

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Neurological aspects of human glycosylation disorders

21 January 2018

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

21 January 2018

1 reference

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Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A

21 January 2018

1 reference

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Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction

21 January 2018

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ALG8-CDG: novel patients and review of the literature

21 January 2018

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Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

21 January 2018

1 reference

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CDG nomenclature: time for a change!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

21 January 2018

1 reference

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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

21 January 2018

1 reference

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Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

21 January 2018

1 reference

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A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Human glycosylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

21 January 2018

1 reference

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Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

21 January 2018

1 reference

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

21 January 2018

1 reference

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The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan

21 January 2018

1 reference

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Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

21 January 2018

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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

21 January 2018

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Normal glycosylation screening does not rule out SRD5A3-CDG.

21 January 2018

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Immunological aspects of congenital disorders of glycosylation (CDG): a review.

21 January 2018

1 reference

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Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

21 January 2018

1 reference

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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

21 January 2018

1 reference

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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Skin manifestations in CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Congenital disorders of glycosylation: new defects and still counting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

The genotypic and phenotypic spectrum of PIGA deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Symbol Nomenclature for Graphical Representations of Glycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Gain-of-glycosylation mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0050-6

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

21 January 2018

1 reference

12 December 2020

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia

1 reference

12 December 2020

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy

1 reference

12 December 2020

CAD mutations and uridine-responsive epileptic encephalopathy.

1 reference

12 December 2020

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

1 reference

12 December 2020

10.1007/S10545-017-0050-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28484880%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference