Genetic cause and prevalence of hydroxyprolinemia

Journal of Inherited Metabolic Disease

Volumn 39, Issue 5, 2016, Pages 625-632

  Staufner, Christian ^a   Haack, Tobias B ^b,c   Feyh, Patrik ^a   Gramer, Gwendolyn ^a   Raga, Deepthi Ediga ^a   Terrile, Caterina ^c   Sauer, Sven ^a   Okun, Jürgen G ^a   Fang Hoffmann, Junmin ^a   Mayatepek, Ertan ^d   Prokisch, Holger ^b,c   Hoffmann, Georg F ^a   Kölker, Stefan ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; HYDROXYPROLINE; ISOLEUCINE; LEUCINE; PROLINE DEHYDROGENASE; PROLINE DEHYDROGENASE 2; UNCLASSIFIED DRUG; OXIDOREDUCTASE; PRODH PROTEIN, HUMAN;

AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTICLE; ASYMPTOMATIC DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEHYDROGENATION; EXOME; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYDROXYPROLINEMIA; HYPERPROLINEMIA; MALE; MAPLE SYRUP URINE DISEASE; MEDICAL HISTORY; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; PREVALENCE; PROTEIN DEGRADATION; SCHOOL CHILD; TANDEM MASS SPECTROMETRY; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; GERMANY; HETEROZYGOTE; HOMOZYGOTE; INFANT; MUTATION; PHENOTYPE; PROCEDURES;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; FEMALE; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDROXYPROLINE; INFANT; INFANT, NEWBORN; MALE; MAPLE SYRUP URINE DISEASE; MUTATION; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PHENOTYPE; PREVALENCE; PROLINE OXIDASE;

EID: 84965022105     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9940-2     Document Type: Article

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