Long-term follow-up of four patients affected by HHH syndrome

Clinica Chimica Acta

Volumn 413, Issue 13-14, 2012, Pages 1151-1155

  Kim, Sook Z ^a   Song, Wung J ^a   Nyhan, William L ^b   Ficicioglu, Can ^c,d   Mandell, Roseann ^c   Shih, Vivian E ^c  

^a Korea Genetic Research Center   (South Korea)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

HHH syndrome; Homocitrullinemia; Hyperammonemia; Hyperornithinemia; Ornithine

Indexed keywords

AMMONIA; ARGININE; BENZOIC ACID; CARBAMAZEPINE; CARNITINE; DEXAMPHETAMINE; GLUTAMINE; HOMOCITRULLINE; LYSINE; METHYLPHENIDATE; ORNITHINE; OROTIC ACID; PHENOBARBITAL; PHENYLACETIC ACID; PHENYTOIN;

ADOLESCENT; ADULT; AMINO ACID ANALYSIS; AMMONIA BLOOD LEVEL; AMNESIA; ARTICLE; BASAL GANGLION; BEHAVIOR DISORDER; BRAIN ATROPHY; BRAIN CALCIFICATION; CASE REPORT; CEREBELLUM DISEASE; CESAREAN SECTION; CHILD; CLONUS; DISEASE COURSE; DNA SEQUENCE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DYSTONIA; EPILEPSY; FEMALE; FIBROBLAST; FOLLOW UP; GAIT DISORDER; GENE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HYPERACTIVITY; HYPERORNITHINEMIA HYPERAMMONEMIA HOMOCITRULLINURIA SYNDROME; HYPERREFLEXIA; INTELLIGENCE QUOTIENT; INTRAUTERINE GROWTH RETARDATION; ION EXCHANGE CHROMATOGRAPHY; MALE; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORNT1 GENE; PARAPLEGIA; PETIT MAL; PREGNANCY OUTCOME; PRIORITY JOURNAL; PROGNOSIS; PROTEIN RESTRICTION; PYRAMIDAL SIGN; SCHOOL CHILD; SEIZURE; SPASTICITY; SUDDEN DEATH; TREMOR; URINE INCONTINENCE;

ADULT; AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACIDS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMATOGRAPHY, ION EXCHANGE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; HYPERAMMONEMIA; MALE; MIDDLE AGED; ORNITHINE; PHENOTYPE; TIME FACTORS; UREA CYCLE DISORDERS, INBORN;

EID: 84860385137     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.03.015     Document Type: Article

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