JIMD Reports, Volume 44
Springer Berlin (Verlag)
978-3-662-58616-7 (ISBN)
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy.- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy.- Psychosocial Functioning in Parents of MPS III Patients.- The Second Case of Saposin A Deficiency and Altered Autophagy.- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.- Cobalamin D Deficiency Identified Through Newborn Screening.- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.- Enzyme Replacement Therapy During Pregnancy in Fabry Patients.- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort.- Reversible Cerebral White Matter Abnormalities in Homocystinuria.
| Erscheinungsdatum | 23.01.2019 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 119 p. 32 illus., 22 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Gewicht | 354 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Schlagworte | endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics |
| ISBN-10 | 3-662-58616-9 / 3662586169 |
| ISBN-13 | 978-3-662-58616-7 / 9783662586167 |
| Zustand | Neuware |
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