Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Erik A Eklund; Liangwu Sun; Vibeke Westphal; Jennifer L Northrop; Hudson H Freeze; Fernando Scaglia

doi:10.1016/j.jpeds.2005.07.042

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Erik A Eklund, Liangwu Sun, Vibeke Westphal, Jennifer L Northrop, Hudson H Freeze, Fernando Scaglia

Sanford Burnham Prebys Medical Discovery Institute

Research output: Contribution to journal › Article › peer-review

Abstract

We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

Original language	English
Pages (from-to)	847-50
Journal	Journal of Pediatrics
Volume	147
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2005.07.042
Publication status	Published - 2005
Externally published	Yes

Free keywords

Bone Diseases, Metabolic
Cataract
Central Nervous System Diseases
Congenital Disorders of Glycosylation/diagnosis
Fatal Outcome
Humans
Infant, Newborn
Liver Diseases
Protein-Losing Enteropathies

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10.1016/j.jpeds.2005.07.042

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title = "Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology",

abstract = "We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.",

keywords = "Bone Diseases, Metabolic, Cataract, Central Nervous System Diseases, Congenital Disorders of Glycosylation/diagnosis, Fatal Outcome, Humans, Infant, Newborn, Liver Diseases, Protein-Losing Enteropathies",

author = "Eklund, {Erik A} and Liangwu Sun and Vibeke Westphal and Northrop, {Jennifer L} and Freeze, {Hudson H} and Fernando Scaglia",

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language = "English",

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journal = "Journal of Pediatrics",

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T1 - Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

AU - Eklund, Erik A

AU - Sun, Liangwu

AU - Westphal, Vibeke

AU - Northrop, Jennifer L

AU - Freeze, Hudson H

AU - Scaglia, Fernando

PY - 2005

Y1 - 2005

N2 - We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

AB - We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.

KW - Bone Diseases, Metabolic

KW - Cataract

KW - Central Nervous System Diseases

KW - Congenital Disorders of Glycosylation/diagnosis

KW - Fatal Outcome

KW - Humans

KW - Infant, Newborn

KW - Liver Diseases

KW - Protein-Losing Enteropathies

U2 - 10.1016/j.jpeds.2005.07.042

DO - 10.1016/j.jpeds.2005.07.042

M3 - Article

C2 - 16356445

SN - 0022-3476

VL - 147

SP - 847

EP - 850

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology

Abstract

Free keywords

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