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1 . Academic Journal
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 ( ORNT1) gene mutation in a Palestinian family
저자
by
Korman, Stanley H.
;
Kanazawa, Naomi
;
Abu-Libdeh, Bassam
;
Gutman, Alisa
;
Tsujino, Seiichi
.
소스
In
Journal of the Neurological Sciences
2004 218(1):53-58
Full Text (ScienceDirect)
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7 . Academic Journal
Violent Extremism, Community-Based Violence Prevention, and Mental Health Professionals.
저자
by
Weine, Stevan M.
;
Stone, Andrew
;
Saeed, Aliya
;
Shanfield, Stephen
;
Beahrs, John
, et al.
소스
Journal of Nervous & Mental Disease
. Jan2017, Vol. 205 Issue 1, p54-57. 4p.
Full Text (LWW)
Web of Science
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7 . Academic Journal
PSAMMOMYS OBESUS OF THE JERUSALEM COLONY: A MODEL FOR NUTRITIONALLY INDUCED, NON-INSULIN-DEPENDENT DIABETES
저자
by
Shafrir, Eleazar
;
Gutman, Alisa
.
소스
Journal of Basic and Clinical Physiology and Pharmacology
. 4(1-2):83-100
Scopus
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4 . Academic Journal
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.
저자
by
Zeharia, Avraham
;
Ebberink, Merel S.
;
Wanders, Ronald J. A.
;
Waterham, Hans R.
;
Gutman, Alisa
, et al.
소스
Journal of Human Genetics
. Jul2007, Vol. 52 Issue 7, p599-606. 8p. 1 Color Photograph, 1 Chart.
Web of Science
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7 . Academic Journal
Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel.
저자
by
Korman, Stanley H.
;
Jakobs, Cornelis
;
Darmin, Patricia S.
;
Gutman, Alisa
;
van der Knaap, Marjo S.
, et al.
소스
European Journal of Paediatric Neurology; Mar2007, Vol. 11 Issue 2, p81-89, 9p
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7 . Academic Journal
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency
저자
by
Korman, Stanley H.
;
Pitt, James J.
;
Boneh, Avihu
;
Dweikat, Imad
;
Zater, Mokhtar
, et al.
소스
Molecular Genetics & Metabolism
. Dec2006, Vol. 89 Issue 4, p332-338. 7p.
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7 . Academic Journal
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency
저자
by
Korman, Stanley H.
;
Waterham, Hans R.
;
Gutman, Alisa
;
Jakobs, Cornelis
;
Wanders, Ronald J.A.
.
소스
Molecular Genetics & Metabolism
. Nov2005, Vol. 86 Issue 3, p337-343. 7p.
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7 . Academic Journal
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.
저자
by
Korman, Stanley H.
;
Gutman, Alisa
;
Stemmer, Edia
;
Kay, Barrie S.
;
Ben-Neriah, Ziva
, et al.
소스
Prenatal Diagnosis; Nov2004, Vol. 24 Issue 11, p857-860, 4p
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7 . Academic Journal
N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.
저자
by
Korman, Stanley H
;
Gutman, Alisa
.
소스
Journal of Pediatric Gastroenterology & Nutrition; Jul2004, Vol. 39 Issue 1, p95-100, 6p
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4 . Academic Journal
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G
>
C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status
저자
by
Korman, Stanley H.
;
Gutman, Alisa
;
Brooks, Rivka
;
Sinnathamby, Thayline
;
Gregersen, Niels
, et al.
소스
Molecular Genetics & Metabolism
. Jun2004, Vol. 82 Issue 2, p121-129. 9p.
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