Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Neurology

Volumn 57, Issue 5, 2001, Pages 911-914

  Salvi, S ^a   Santorelli, F M ^a   Bertini, E ^a   Boldrini, R ^a   Meli, C ^b   Donati, A ^c   Burlina, A B ^d   Rizzo, C ^a   Di Capua, M ^a   Fariello, G ^a   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; HOMOCITRULLINE; ORNITHINE;

ADOLESCENT; ADULT; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; CLINICAL ARTICLE; CLINICAL EXAMINATION; ELECTRON MICROSCOPY; FEMALE; HOMOCITRULLINURIA; HUMAN; HUMAN TISSUE; HYPERAMMONEMIA; HYPERORNITHINEMIA; INBORN ERROR OF METABOLISM; MALE; MUSCLE BIOPSY; NEUROLOGICAL COMPLICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL TRACT; SPASTIC PARAPLEGIA; SYNDROME DELINEATION;

EID: 0035845671     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.5.911     Document Type: Article

References (10)

1. Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: Neurologic, ophthalmologic, and neuropsychologic examination of six patients
2. The hyperonithinemias
3. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
4. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
5. The purified and reconstituted ornithine/citrulline carrier from rat liver mitochondria catalyses a second transport mode: Ornithine+/H+ exchange
6. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Low creatine excretion and effect of citrulline, arginine, or ornithine supplement
7. Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome
8. Hereditary. "pure" spastic paraplegia: A clinical and genetic study of 22 families
9. Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: Follow-up of guanidino compound levels during therapy
10. Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria)