Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Journal of Inherited Metabolic Disease

Volumn 39, Issue 3, 2016, Pages 331-340

  Huemer, Martina ^a,b,c   Carvalho, Daniel R ^d   Brum, Jaime M ^d   Ünal, Özlem ^e,f   Coskun, Turgay ^e   Weisfeld Adams, James D ^g,h   Schrager, Nina L ^g   Scholl Bürgi, Sabine ⁱ   Schlune, Andrea ^j   Donner, Markus G ^k   Hersberger, Martin ^a   Gemperle, Claudio ^a   Riesner, Brunhilde ^c   Ulmer, Hanno ⁱ   Häberle, Johannes ^a,b   Karall, Daniela ⁱ  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Landeskrankenhaus Bregenz ^*  (Austria)

^d SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^e HACETTEPE UNIVERSITY   (Turkey)

^f Ankara Child Health Hematology Oncology Education and Research Hospital   (Turkey)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h University of Colorado Denver and Children s Hospital Colorado   (United States)

ⁱ INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^j UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^k HEINRICH HEINE UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGINASE 1; ARGININE; BENZOIC ACID; CREATINE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; ESSENTIAL AMINO ACID; GLYCEROL PHENYLBUTYRATE; GUANIDINOACETIC ACID; INDUCIBLE NITRIC OXIDE SYNTHASE; N(G),N(G) DIMETHYLARGININE; NITRATE; NITRIC OXIDE; AMINO ACID; ARGINASE; ARGINASE I, HUMAN; GLYCINE; N,N-DIMETHYLARGININE;

ADOLESCENT; AMINO ACID BLOOD LEVEL; ARGINASE 1 DEFICIENCY; ARTICLE; BIOCHEMICAL ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GRAND MAL EPILEPSY; HUMAN; HYPERAMMONEMIA; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; NEWBORN SCREENING; OUTCOME VARIABLE; OXIDATIVE STRESS; PARAPLEGIA; PATHOPHYSIOLOGY; PHENOTYPE; PREDICTOR VARIABLE; PROTEIN INTAKE; PROTEIN RESTRICTION; PSYCHOMOTOR RETARDATION; SEIZURE; SPASTIC PARESIS; SPASTICITY; UREA CYCLE DISORDER; ADULT; ANALOGS AND DERIVATIVES; BLOOD; CASE CONTROL STUDY; CHILD; GENETICS; INFANT; METABOLISM; MIDDLE AGED; PHYSIOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACIDS; ARGINASE; ARGININE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GLYCINE; HUMANS; INFANT; MALE; MIDDLE AGED; NITRIC OXIDE; NITRIC OXIDE SYNTHASE TYPE II; NITRIC OXIDE SYNTHASE TYPE III; OXIDATIVE STRESS; PHENOTYPE; RETROSPECTIVE STUDIES; UREA CYCLE DISORDERS, INBORN; YOUNG ADULT;

EID: 84962140728     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9928-y     Document Type: Article

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