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JIMD Reports - Case and Research Reports, 2011/2

SSIEM (Herausgeber)

Buch | Softcover
VII, 123 Seiten
2011 | 2012
Springer Berlin (Verlag)
978-3-642-24757-6 (ISBN)

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This book offers peer-reviewed case studies and short research reports in the area of inherited metabolic disorders. Coverage includes unusual or previously unrecorded relevant features, and reminders of clinical or biochemical aspects of Menedelian disorders.
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.

From the reviews:

"This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. ... the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. ... The book does fulfill its purpose, but the audience is ... geneticists and those specializing in each of these rare disorders." (Christine Yu, Doody's Review Service, March, 2012)

Erscheint lt. Verlag 22.10.2011
Reihe/Serie JIMD Reports
Zusatzinfo VII, 123 p. 31 illus., 11 illus. in color.
Verlagsort Berlin
Sprache englisch
Maße 210 x 279 mm
Gewicht 339 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Pädiatrie
Studium 1. Studienabschnitt (Vorklinik) Biochemie / Molekularbiologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Schlagworte endocrinology • inherited metabolic diseases • medical genetics • Metabolic disease • Pediatrics
ISBN-10 3-642-24757-1 / 3642247571
ISBN-13 978-3-642-24757-6 / 9783642247576
Zustand Neuware
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