Congenital disorders of glycosylation type Ia: Clinical, biochemical and molecular analyses in two siblings with cerebellar hypoplasia;Dědičné poruchy glykosylace proteinů typ Ia: Klinická, biochemická a molekulární charakteristika u dvou sourozenců s hypoplazií mozečku

Casopis Lekaru Ceskych

Volumn 142, Issue 5, 2003, Pages 276-279

  Honzik T ^a   Malonova E ^a   Hansikova H ^a   Rosipal, R ^a   Poupetova H ^a   Martasek P ^a   Zeman, Jiří ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

CDG Ia; Cerebellar hypoplasia; Failure to thrive; Psychomotor retardation

Indexed keywords

ALPHA MANNOSIDASE; ANTITHROMBIN III; BETA GLUCURONIDASE; BLOOD CLOTTING FACTOR 11; CEREBROSIDE SULFATASE; GLYCOPROTEIN; LIVER ENZYME; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; PROTEIN C; PROTEIN S; TRANSFERRIN; UNCLASSIFIED DRUG; MUTASE;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; CZECH REPUBLIC; ENZYME ACTIVITY; EPILEPSY; FAILURE TO THRIVE; GENETIC COUNSELING; GENETIC POLYMORPHISM; GLYCOPROTEIN SYNTHESIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; INVERTED NIPPLE; ISOELECTRIC FOCUSING; LEUKOCYTE; METABOLIC DISORDER; MICROCEPHALY; MUSCLE HYPOTONIA; NIPPLE MALFORMATION; PRENATAL DIAGNOSIS; PROGNOSIS; PSYCHOMOTOR RETARDATION; SIBLING; STRABISMUS; SYNDROME DELINEATION; TRANSFERRIN BLOOD LEVEL; CEREBELLUM; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MALFORMATION; FEMALE; GENETICS; INFANT; MALE; MUTATION;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEREBELLUM; CHILD; FEMALE; HUMANS; INFANT; MALE; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 0041783596     PISSN: 00087335     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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