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Clinics in Laboratory Medicine, 2012
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Rochelle Hirschhorn
The American Journal of Human Genetics, 1998
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The International Journal of Biochemistry & Cell Biology, 2013
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2018
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Journal of Inherited Metabolic Disease, 2000
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2012
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Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates
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Sultan Qaboos University Medical Journal, 2014
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Nephrology Dialysis Transplantation, 2012
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Saudi medical journal, 2011
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Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population
Sylvia Anderson
American Journal of Medical Genetics, 2004
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A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene
Ron Wevers
American journal of human genetics, 1995
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Kidney International, 2000
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Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism
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European Journal of Pediatrics, 1997
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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects
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Biomedicines
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Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10
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The American Journal of Human Genetics, 2008
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Medical genetics 1962
Samia A Temtamy
Journal of Chronic Diseases, 1963
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Sergey Korostelev
Metabolic Brain Disease, 2020
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Paul Markovitz
Transactions of the American Clinical and Climatological Association, 1986
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Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere
Journal of Inherited Metabolic Disease, 2010
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Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation
Najmeh Fattahi
Journal of cellular biochemistry, 2018
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Family History and Biochemical Diagnosis in 1948 Kid
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2018
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Inborn errors of metabolism: a clinical overview
Ana Célia M A R T I N S Rocha
Sao Paulo Medical Journal, 1999
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Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India
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Clinical Rheumatology, 2020
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β-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-α-lipoproteinaemia
Pilar Giraldo
The Lancet, 1998
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Saltanat Aghayeva
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Human Mutation, 2009
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