Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature (Q39446939)

12 September 2017

title

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature (English)

1 reference

12 September 2017

0 references

1 reference

Dorinda Marques-da-Silva

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Rita Francisco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

Vanessa Dos Reis Ferreira

5 June 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Thomas Pulinilkunnil

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

D Webster

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

J Jaeken

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

19 July 2017

1 reference

Journal of Inherited Metabolic Disease

12 September 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

657-672

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

5 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Further Delineation of the ALG9-CDG Phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

TMEM165 Deficiency: Postnatal Changes in Glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Inherited syndrome of infantile olivopontocerebellar atrophy, micronodular cirrhosis, and renal tubular microcysts: review of the literature and a report of an additional case

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Novel B3GALTL mutation in Peters-plus Syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

In-silico Modeling of the Functional Role of Reduced Sialylation in Sodium and Potassium Channel Gating of Mouse Ventricular Myocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Carbohydrate-deficient glycoprotein syndrome-associated pericardial effusion treated with corticosteroids and salicylic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Murine ortholog of the novel glycosyltransferase, B3GTL: primary structure, characterization of the gene and transcripts, and expression in tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

SRD5A3-CDG: a patient with a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Defective glycosylation of calsequestrin in heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Regulated and aberrant glycosylation modulate cardiac electrical signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Aberrant Glycosylation in the Left Ventricle and Plasma of Rats with Cardiac Hypertrophy and Heart Failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

MiR30-GALNT1/2 Axis-Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiac involvement in Fukuyama-type congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Early manifestations of the carbohydrate-deficient glycoprotein syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Congenital disorders of glycosylation with neonatal presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

ALG1-CDG: a new case with early fatal outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

MAN1B1 deficiency: an unexpected CDG-II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

News on Clinical Details and Treatment in PGM1-CDG

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

The genotypic and phenotypic spectrum of PIGA deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

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%2FS10545-017-0066-Y

Multiple phenotypes in phosphoglucomutase 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

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%2FS10545-017-0066-Y

Mouse models for congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A new case of ALG8 deficiency (CDG Ih).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Post-translational modifications enhance NT-proBNP and BNP production in acute decompensated heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Glycosylation of purified buffalo heart galectin-1 plays crucial role in maintaining its structural and functional integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0066-Y

The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I)

21 January 2018

1 reference

12 December 2020

Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion

1 reference

12 December 2020

A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts

1 reference

12 December 2020

Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography.

1 reference

12 December 2020

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

1 reference

12 December 2020

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

1 reference

12 December 2020

Cardiomyopathy in congenital disorders of glycosylation.

1 reference

12 December 2020

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

The proteoglycan-dystrophin complex in genetic cardiomyopathies--lessons from three siblings with limb-girdle muscular dystrophy-2I (LGMD-2I)

1 reference

12 December 2020

Perinatal and early infantile symptoms in congenital disorders of glycosylation

1 reference

12 December 2020

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

1 reference

12 December 2020

Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy

1 reference

12 December 2020

Heart transplantation in a child with congenital disorder of glycosylation

1 reference

12 December 2020

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

1 reference

12 December 2020

Mutation analysis of B3GALTL in Peters Plus syndrome

1 reference

12 December 2020

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome

1 reference

12 December 2020

10.1007/S10545-017-0066-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28726068%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference