A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

Journal of Inherited Metabolic Disease

Volumn 36, Issue 3, 2013, Pages 535-542

  Pérez, Belén ^a   Medrano, Celia ^a   Ecay, Maria Jesus ^a   Ruiz Sala, Pedro ^a   Martínez Pardo, Mercedes ^b   Ugarte, Magdalena ^a   Pérez Cerdá, Celia ^a,c  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE KINASE; GLUCOSE 1 PHOSPHATE; GLUCOSE 6 PHOSPHATE; GLYCAN; GLYCINE; GROWTH HORMONE; PHOSPHOGLUCOMUTASE; TRANSFERRIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD ANALYSIS; BRANCHIAL ARCH; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EX VIVO STUDY; EXON; FIBROBLAST; FUNCTIONAL ASSESSMENT; GENE EXPRESSION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; GLYCOSYLATION; GROWTH HORMONE DEFICIENCY; HUMAN; IMMUNOREACTIVITY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; METHYLATION; MUSCLE FATIGUE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PATHOGENESIS; QUANTITATIVE ANALYSIS; WESTERN BLOTTING;

ADOLESCENT; CARBOHYDRATE METABOLISM; CARBOHYDRATE SEQUENCE; CENTRAL NERVOUS SYSTEM; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHOSPHOGLUCOMUTASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84877758448     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9525-7     Document Type: Article

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