Underdiagnosis of mild congenital disorders of glycosylation type Ia-Reference-Cited by-同舟云学术

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Underdiagnosis of mild congenital disorders of glycosylation type Ia

Published:2005-02 Issue:2 Volume:32 Page:121-123
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Giurgea Irina,Michel Anne,Le Merrer Martine,Seta Nathalie,de Lonlay Pascale

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome);Matthijs;Nat Genet,1997

2. Carbohydrate-deficient glycoprotein syndrome;Stibler;J Neurol Neurosurg Psychiatry,1994

3. A broad spectrum of clinical presentations in congenital disorders of glycosylation I;de Lonlay;J Med Genet,2001

4. Congenital disorders of glycosylation;Grunewald;Pediatr Res,2002

5. Komrower Lecture. Congenital disorders of glycosylation (CDG);Jaeken;J Inherit Metab Dis,2003

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1. Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia;Journal of Pediatric Neurology;2024-05-29

2. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism;The Cerebellum;2023-05-08

3. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

4. A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones;Human Mutation;2022-07-16

5. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report;Frontiers in Genetics;2020-10-07

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