HSD10 disease: Clinical consequences of mutations in the HSD17B10 gene

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 81-89

  Zschocke, Johannes ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

17BETA HYDROXYSTEROID DEHYDROGENASE 10; ISOLEUCINE; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG;

2 METHYL 3 HYDROXYBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; AGE DISTRIBUTION; AMINO ACID METABOLISM; AMINO ACID URINE LEVEL; ARTICLE; CARDIOMYOPATHY; CHILD; CHILDHOOD DISEASE; CHILDHOOD MORTALITY; CLINICAL FEATURE; DEGENERATIVE DISEASE; DEHYDROGENATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL DISEASE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HSD17B10 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; LACTIC ACIDOSIS; METABOLIC DISORDER; MUTATIONAL ANALYSIS; PATHOGENESIS; PROTEIN FUNCTION; RETINOPATHY; SEX DIFFERENCE; URINALYSIS;

3-HYDROXYACYL COA DEHYDROGENASES; AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; ISOLEUCINE; MALE; MODELS, GENETIC; MUTATION;

EID: 84863322665     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9415-4     Document Type: Article

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