Timing of cerebral developmental disruption in molybdenum cofactor deficiency

Journal of Child Neurology

Volumn 26, Issue 8, 2011, Pages 1059-1060

  Veldman, Alex ^a,b   Hennermann, Julia B ^c   Schwarz, Guenter ^d   Van Spronsen, Francjan ^e   Weis, Ilona ^f   Wong, Flora Y ^a,b   Schwahn, Bernd C ^g  

^a MONASH MEDICAL CENTRE   (Australia)

^b MONASH UNIVERSITY   (Australia)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF GRONINGEN   (Netherlands)

^f Gemeinschaftsklinikum Koblenz Mayen ^*  (Germany)

^g ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC PYRANOPTERIN MONOPHOSPHATE; CYSTEINE; MOLYBDENUM; PHOSPHATE; S SULFOCYSTEINE; UNCLASSIFIED DRUG;

AMNION FLUID ANALYSIS; BRAIN CYST; BRAIN DEGENERATION; BRAIN DEVELOPMENT; BRAIN ISCHEMIA; BRAIN VENTRICLE DILATATION; CASE REPORT; ECHOGRAPHY; FETUS DISEASE; HUMAN; LETTER; MALE; MOLYBDENUM COFACTOR DEFICIENCY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEIZURE; SUBCORTICAL CYST; WHITE MATTER;

BRAIN; HUMANS; MALE;

EID: 79960664399     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811415851     Document Type: Letter

References (4)

1. Carmi-Nawi N, Malinger G, Mandel H, Ichida K, Lerman-Sagie T, Lev D. Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol. 2011 ; 26: 460-4
2. Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010 ; 125: e1249-54
3. Johnson JL, Duran M The Metabolic and Molecular Bases of Inherited Disease. Scriver C Beaudet A Sly W Valle D, ed. New York, NY: McGraw-Hill ; 2001: 3163-77.
4. Reiss J, Bonin M, Schwegler H, et al. The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab. 2005 ; 85: 12-20 (Pubitemid 40603020)