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。Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation
David F. G. J. Wolthuis et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)
Thrombotic complications in patients with PMM2-CDG
M. Linssen et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Cyril Mignot et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Jaak Jaeken
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Nadia Leticee et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
M. Anheim et al.
BRAIN (2009)
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I
E. Morava et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2009)
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
B. Perez-Duenas et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2009)
Congenital Disorders of Glycosylation: An Update on Defects Affecting the Biosynthesis of Dolichol-Linked Oligosaccharides
Micha A. Haeuptle et al.
HUMAN MUTATION (2009)
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia
Rita Barone et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
The skeletal manifestations of the congenital disorders of glycosylation
D. Coman et al.
CLINICAL 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)
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia)
Donna Krasnewich et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2007)
Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype
D. Coman et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2007)
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult
Kerrie L. Schoffer et al.
MOVEMENT DISORDERS (2006)
Neurological presentation in pediatric patients with congenital disorders of glycosylation type 1a
E Miossec-Chauvet et al.
NEUROPEDIATRICS (2003)
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype
S Kjaergaard et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2001)
Neurological presentation of a congenital disorder of glycosylation CDG-Ia:: Implications for diagnosis and genetic counseling
V Drouin-Garraud et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Scandinavian CDG-Ia patients:: genotype/phenotype correlation and geographic origin of founder mutations
A Erlandson et al.
HUMAN GENETICS (2001)
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
P de Lonlay et al.
JOURNAL OF MEDICAL GENETICS (2001)
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
S Vuillaumier-Barrot et al.
JOURNAL OF MEDICAL GENETICS (2000)