Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

Developmental Medicine and Child Neurology

Volumn 52, Issue 9, 2010, Pages 868-872

  Gümüş, Hakan ^a   Ghesquiere, Stijn ^b   Per, Hüseyin ^a   Kondolot, Meda ^a   Ichida, Kimiyoshi ^c   poyrazoĝlu, Gamze ^a   Kumandaş, Sefer ^a   engelen, john ^b   Dundar, Munis ^a   Çaĝlayan, Ahmet Okay ^d  

^a ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c TOKYO UNIVERSITY OF PHARMACY AND LIFE SCIENCES   (Japan)

^d Department of Pathophysiology Tokyo University of Pharmacy and Life Sciences ^*  (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; PHENOBARBITAL; SULFITE; TAURINE; URIC ACID; VIGABATRIN; CARRIER PROTEIN; COENZYME; GEPHYRIN; MEMBRANE PROTEIN; METALLOPROTEIN; MOCS1 PROTEIN, HUMAN; MOLYBDENUM COFACTOR; MOLYBDOPTERIN SYNTHASE; NUCLEAR PROTEIN; PTERIDINE DERIVATIVE; SULFURTRANSFERASE;

ARTICLE; BIRTH; BRAIN ATROPHY; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBROSPINAL FLUID; CORPUS CALLOSUM; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; ENCEPHALOMALACIA; FEEDING DISORDER; GENE SEQUENCE; GENOTYPE; HUMAN; INFANT; INHERITANCE; INTRACTABLE EPILEPSY; MALE; METABOLIC DISORDER; MICROCEPHALY; MOLYBDENUM COFACTOR DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; URIC ACID BLOOD LEVEL; COENZYME; DEFICIENCY; FEEDING BEHAVIOR; FEMALE; GENETICS; INBORN ERROR OF METABOLISM; MOTHER; SEIZURES;

CARRIER PROTEINS; COENZYMES; DEVELOPMENTAL DISABILITIES; FEEDING BEHAVIOR; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; METABOLISM, INBORN ERRORS; METALLOPROTEINS; MICROCEPHALY; MOTHERS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PTERIDINES; SEIZURES; SULFURTRANSFERASES; UNIPARENTAL DISOMY;

EID: 77955759731     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03724.x     Document Type: Article

References (9)

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