HHH syndrome associated with callosal agenesis and disordered neuronal migration

Developmental Medicine and Child Neurology

Volumn 43, Issue 6, 2001, Pages 430a-431

  Gallagher, A C ^a   Pike, M ^a   Standing, S ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GLUTAMINE;

ACIDURIA; AMINO ACID BLOOD LEVEL; BRAIN MALFORMATION; CASE REPORT; CHILDHOOD DISEASE; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; FEEDING DISORDER; HUMAN; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; HYPERTELORISM; INBORN ERROR OF METABOLISM; INFANT; LETTER; LUNG MALFORMATION; MUSCLE HYPOTONIA; NEUROPATHY; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SPASTICITY; VOMITING;

EID: 0034916829     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2001.tb00237.x     Document Type: Letter

References (4)

1. Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria
2. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
3. Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: Neurologic, ophthalmologic, and neuropsychologic examination of six patients