We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype
Background: Phosphomannomutase 2 deficiency (PMM2-CDG) affects glycosylation pathways such as the N-...
AbstractCongenital disorders of glycosylation are a clinically and genetically heterogeneous group o...
Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease char...
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs ct al., 1997b]. Se...
Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by m...
We screened 11 unrelated French patients with congenital disorders of glycosylation (CDG) Ia for PMM...
We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders ...
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and li...
Congenital Disorders of Glycosylation (CDG) are a family of multisystem inherited disorders caused b...
Congenital glycosylation disorders represent a group of genetically determined diseases which violat...
The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans proce...
We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylat...
Abstract Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycos...
Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CD...
International audiencePMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the...
Background: Phosphomannomutase 2 deficiency (PMM2-CDG) affects glycosylation pathways such as the N-...
AbstractCongenital disorders of glycosylation are a clinically and genetically heterogeneous group o...
Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease char...
The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs ct al., 1997b]. Se...
Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by m...
We screened 11 unrelated French patients with congenital disorders of glycosylation (CDG) Ia for PMM...
We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders ...
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and li...
Congenital Disorders of Glycosylation (CDG) are a family of multisystem inherited disorders caused b...
Congenital glycosylation disorders represent a group of genetically determined diseases which violat...
The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans proce...
We report 3 siblings (1 male and 2 female) recently diagnosed with congenital disorder of glycosylat...
Abstract Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycos...
Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CD...
International audiencePMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the...
Background: Phosphomannomutase 2 deficiency (PMM2-CDG) affects glycosylation pathways such as the N-...
AbstractCongenital disorders of glycosylation are a clinically and genetically heterogeneous group o...
Carbohydrate-deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease char...
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