CDG-Id in two siblings with partially different phenotypes.

CDG-Id in two siblings with partially different phenotypes. Research Abstract Details 

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CDG-Id in two siblings with partially different phenotypes. Abstract Text:

Christian Kranz,Liangwu Sun,Erik A Eklund,Donna Krasnewich,Janet R Casey,Hudson H Freeze,

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that leads to the synthesis of a severely truncated oligosaccharide precursor for N-glycans. The defect is corrected by introduction of a normal ALG3 cDNA. CDG should be ruled out in all patients with severe seizures and failure to thrive. (c) 2007 Wiley-Liss, Inc.

CDG-Id in two siblings with partially different phenotypes. Publishing Authors By Initials

C Kranz,L Sun,EA Eklund,D Krasnewich,JR Casey,HH Freeze,

For similar behavior and behavior mechanisms: psychology, social: family: nuclear family: siblings research abstracts see: behavior and behavior mechanisms: psychology, social: family: nuclear family: siblings research

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CDG-Id in two siblings with partially different phenotypes. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 1414-20

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 1

MONTH: Jul

YEAR: 2007

CDG-Id in two siblings with partially different phenotypes. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

CDG-Id in two siblings with partially different phenotypes. Keywords Mesh Terms:

KEYWORDS: Siblings

MESH TERMS: etiology

Chemical & Substance for Abstract: CDG-Id in two siblings with partially different phenotypes. Information

Substance Name: Mannosyltransferases

Registry Number: EC 2.4.1.-

Grant and Affiliation Information for CDG-Id in two siblings with partially different phenotypes.

AFFILIATION: Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute for Medical Research, 10901 N. Torrey Pines Road, La Jolla, CA 92037, USA.

Country: United States

AGENCY: United States NIDDK

GRANT: R01 DK 55615

ACRONYM: DK

MEDLINETA: Am J Med Genet A

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