Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins-Reference-Cited by-同舟云学术

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Published:2002-11 Issue:5 Volume:141 Page:695-700
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Enns Gregory M.,Steiner Robert D.,Buist Neil,Cowan Charles,Leppig Kathleen A.,McCracken Marjorie F.,Westphal Vibeke,Freeze Hudson H.,O'Brien John F.,Jaeken Jaak,Matthijs Gert,Behera Sarina,Hudgins Louanne

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Disorders in protein glycosylation and potential therapy: tip of the iceberg?;Freeze;J Pediatr,1998

2. Carbohydrate-deficient glycoprotein syndrome;Krasnewich;Adv Pediatr,1997

3. Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes;Patterson;J Child Neurol,1999

4. Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome;Jaeken;Acta Paediatr Scand Suppl,1991

5. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1;Imtiaz;J Inherit Metab Dis,2000

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