JIMD Reports, Volume 38

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapt...

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Médium: Elektronický zdroj E-kniha
Jazyk:angličtina
Vydáno: Berlin, Heidelberg : Springer Berlin Heidelberg , 2018.
Vydání:1st ed. 2018.
Edice:JIMD Reports, 38
Témata:
Human genetics.
Metabolic diseases.
Pediatrics.
Molecular biology.
ISBN:9783662566107
ISSN:2192-8304 ;
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Shrnutí:JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
Popis jednotky:Biomedical and Life Sciences
Fyzický popis:VI, 105 p. 20 illus., 7 illus. in color. online resource.
ISBN:9783662566107
ISSN:2192-8304 ;

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