Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Rimella-Le-Huu, A
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. [electronic resource] - Journal of inherited metabolic disease Dec 2008 - S381-6 p. digital
Publication Type: Case Reports; Journal Article
1573-2665
10.1007/s10545-008-0959-x doi
Biomarkers--blood
Brain--enzymology
Child Development
Child, Preschool
Congenital Disorders of Glycosylation--complications
Genotype
Humans
Infant
Magnetic Resonance Imaging
Male
Mannosyltransferases--genetics
Mutation, Missense
Neurologic Examination
Phenotype
Transferrin--analysis
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. [electronic resource] - Journal of inherited metabolic disease Dec 2008 - S381-6 p. digital
Publication Type: Case Reports; Journal Article
1573-2665
10.1007/s10545-008-0959-x doi
Biomarkers--blood
Brain--enzymology
Child Development
Child, Preschool
Congenital Disorders of Glycosylation--complications
Genotype
Humans
Infant
Magnetic Resonance Imaging
Male
Mannosyltransferases--genetics
Mutation, Missense
Neurologic Examination
Phenotype
Transferrin--analysis