| Description |
1 online resource (126 pages) |
| Series |
JIMD Reports, 2192-8304 ; 9 |
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JIMD reports ; 9. 2192-8304
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| Contents |
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency / Elsebet Ostergaard, Morten Duno -- Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease / Marina Siebert, Hugo Bock -- Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation / F.J. Stoop, M.C. Kruyt -- Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH₄) / A.G. Thiele, J.F. Weigel, B. Ziesch -- Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease / A. Pisani, L. Spinelli, B. Visciano -- Molecular Genetics and Genotype-Based Estimation of BH₄-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S / Maja Djordjevic, Kristel Klaassen |
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Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients / Riffat Aslam, Annelotte C.M. van Bommel -- Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up / GianPietro Sechi, Isabella Ceccherini -- Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2 / N. Ramanathan, M. Ahmed, E. Raffan -- The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case / M.C. Tchan, B. Wilcken, J. Christodoulou -- Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene / Talita E R Adelino, Gustavo G Martins -- A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine / A. Benarrosh, R. Garnotel, A. Henry -- Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation / S. Rodney, A. Boneh |
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Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases / Katalin Komlósi, Anita Maász, Péter Kisfali -- Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy / Gerarda Cappuccio, Nicola Brunetti-Pierri -- Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process / E.J. Langereis, I.E.T. van den Berg -- Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS) / Allison Jay, Mary Seeterlin, Eleanor Stanley -- Leptin Levels in Children and Adults with Classic Galactosaemia / Ina Knerr, Karen P. Coss, Peter P. Doran -- CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy / Hamoud H. Al Khallaf, Jennifer Propst -- Partial Pyridoxine Responsiveness in PNPO Deficiency / Phillip L. Pearl, Keith Hyland, J Chiles |
| Summary |
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 |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
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Print version record |
| Subject |
Metabolism, Inborn errors of -- Research
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Metabolism, Inborn errors of.
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Research.
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Metabolism, Inborn Errors
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Research
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research (function)
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MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
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Médecine.
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Human genetics
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Human physiology
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Medicine
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Metabolism -- Disorders
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Pediatrics
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| Form |
Electronic book
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| Author |
Zschocke, Johannes.
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Gibson, Kenneth Michael, 1955-
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Brown, Garry
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Morava, Eva
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| ISBN |
9783642355189 |
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3642355188 |
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364235517X |
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9783642355172 |
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9781283945035 |
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1283945037 |
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