相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Prenatal Cardiac Ultrasound Finding in Congenital Disorder of Glycosylation Type 1a
A. Malhotra et al.
FETAL DIAGNOSIS AND THERAPY (2009)
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S. Romano et al.
JOURNAL OF MEDICAL GENETICS (2009)
Human RFT1 deficiency leads to a disorder of N-linked glycosylation
Micha A. Haeuptle et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
On the nomenclature of congenital disorders of glycosylation (CDG)
J. Jaeken et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
J. B. Arnoux et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Congenital disorders of glycosylation:: Rapidly enlarging group of (neuro)metabolic disorders
Stephanie Grunewald
EARLY HUMAN DEVELOPMENT (2007)
Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features
Beamon Agarwal et al.
HUMAN PATHOLOGY (2007)
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig):: Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality
Christian Kranz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
Eva Morava et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy
Blanche Schroen et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2007)
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
Christian Kranz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The liver in congenital disorders of glycosylation: Ultrastructural features
Theodore C. Lancu et al.
ULTRASTRUCTURAL PATHOLOGY (2007)
N-cadherin is required for neural crest remodeling of the cardiac outflow tract
Yang Luo et al.
DEVELOPMENTAL BIOLOGY (2006)
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)
M Jackson et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
CDG-IL:: An infant with a novel mutation in the ALG9 gene and additional phenotypic features
M Weinstein et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
E Aronica et al.
ACTA NEUROPATHOLOGICA (2005)
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder
XH Wu et al.
NATURE MEDICINE (2004)
Congenital disorders of glycosylation type ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase
I Chantret et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Carbohydrate-deficient glycoprotein syndromes: The Italian experience
M Di Rocco et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
F Imtiaz et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)