Phosphomannomutase deficiency: The molecular basis of the classical Jaeken syndrome (CDGS type Ia)

Molecular Genetics and Metabolism

Volumn 68, Issue 2, 1999, Pages 220-226

  Matthijs, Gert ^a   Schollen, Els ^a   Heykants, Leen ^a   Grünewald, Stephanie ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Central nervous system; Lack of homozygosity; Metabolic disease; Mutation analysis; N glycosylation; Phosphomannomutase; Recessive disease; Transferrin

Indexed keywords

PHOSPHOMANNOMUTASE;

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 16; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME DEFICIENCY; GENE EXPRESSION; GENE MUTATION; GENE STRUCTURE; HEART DISEASE; ISOELECTRIC FOCUSING; KIDNEY DISEASE; LIVER DISEASE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; SHORT SURVEY; SKELETON MALFORMATION;

EID: 0032759158     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2914     Document Type: Article

References (38)

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