Spherophakia associated with molybdenum cofactor deficiency

American Journal of Medical Genetics

Volumn 73, Issue 3, 1997, Pages 272-275

  Parini, Rossella ^a   Briscioli, Vincenza ^a   Caruso, Ubaldo ^b   Dorche, Claude ^c   Fortuna, Renato ^a   Minniti, Giuseppe ^b   Selicorni, Angelo ^a   Vismara, Elisabetta ^a   Mancini, Grazia ^d  

^a PARKINSON INSTITUTE   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c HÔPITAL DEBROUSSE   (France)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Lens dislocation; Molybdenum cofactor deficiency; Spherophakia; Sulfite oxidase deficiency

Indexed keywords

ALDEHYDE OXIDASE; MOLYBDENUM; SULFITE OXIDASE; XANTHINE DEHYDROGENASE; XANTHINE OXIDASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONVULSION; CRANIOFACIAL MALFORMATION; DEATH; ENZYME DEFICIENCY; HUMAN; LENS LUXATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; COENZYMES; FATAL OUTCOME; GENES, RECESSIVE; HUMANS; LENS SUBLUXATION; LENS, CRYSTALLINE; MALE; METALLOPROTEINS; PTERIDINES; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0030722639     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971219)73:3<272::AID-AJMG8>3.0.CO;2-U     Document Type: Article

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