The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Martinelli, Diego ^a   Diodato, Daria ^a   Ponzi, Emanuela ^a,b   Monné, Magnus ^c   Boenzi, Sara ^a   Bertini, Enrico ^a   Fiermonte, Giuseppe ^d   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^c UNIVERSITY OF BASILICATA   (Italy)

^d UNIVERSITY OF BARI   (Italy)

Author keywords

HHH syndrome; Hyperammonemia; ORC1; ORNT1; SLC25A15; Urea cycle disorders

Indexed keywords

4 PHENYLBUTYRIC ACID; AMMONIA; ARGININE; BENZOIC ACID; CITRULLINE; ORNITHINE C 14; RADIOPHARMACEUTICAL AGENT; UNCLASSIFIED DRUG; ORC1 PROTEIN, HUMAN; ORIGIN RECOGNITION COMPLEX; ORNITHINE;

ACUTE LIVER FAILURE; AMMONIA BLOOD LEVEL; APRAXIA; ATAXIA; BEHAVIOR CHANGE; BUCCOFACIOLINGUAL DYSPRAXIA; CASE STUDY; CEREBRAL DYSPLASIA; CEREBRAL PALSY; COGNITIVE DEFECT; COMA; COMPUTER ASSISTED TOMOGRAPHY; DIET SUPPLEMENTATION; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DROP ATTACK; DYSARTHRIA; DYSDIADOCHOKINESIA; DYSPHASIA; DYSPLASIA; FULMINANT HEPATIC FAILURE; GAIT DISORDER; GENE; GENE PRODUCT; GENE TRANSLOCATION; GENETIC SCREENING; GENOTYPE; GINGIVA BLEEDING; HEPATITIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERARGININEMIA; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; HYPERREFLEXIA; INTELLECTUAL IMPAIRMENT; LETHARGY; MENTAL DISEASE; MICROCEPHALY; MOLECULAR GENETICS; MOTOR COORDINATION; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; MYOCLONUS SEIZURE; NEUROLOGIC DISEASE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; ORNT1 GENE; PATHOPHYSIOLOGY; PHENOTYPE; PHYLOGENY; PROSPECTIVE STUDY; PROTEIN RESTRICTION; PROTHROMBIN TIME; RETROSPECTIVE STUDY; REVIEW; SKIN FIBROBLAST; SLC25A15 GENE; SLC25A29 GENE; SUBDURAL HEMATOMA; SYSTEMATIC REVIEW; TREMOR; VOMITING; AGING; DEFICIENCY; GENETICS; HYPERAMMONEMIA; METABOLISM; MUTATION; PATHOLOGY; PROTEIN CONFORMATION; UREA CYCLE DISORDERS, INBORN;

AGING; HUMANS; HYPERAMMONEMIA; MUTATION; ORIGIN RECOGNITION COMPLEX; ORNITHINE; PROTEIN CONFORMATION; UREA CYCLE DISORDERS, INBORN;

EID: 84928751145     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0242-9     Document Type: Review

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