| Description |
1 online resource (vi, 123 pages) : illustrations (some color) |
| Series |
JIMD Reports, 2192-8304 ; v. 10 |
|
JIMD reports ; v. 10.
|
| Contents |
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates -- Chitotriosidase Deficiency: A Mutation Update in an African Population -- NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plu" to Leigh Syndrome -- Accuracy of Six Anthropometric Skinfold Formulas Versus Air Displacement Plethysmography for Estimating Percent Body Fat in Female Adolescents with Phenylketonuria -- Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease -- Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency -- MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation -- Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases -- Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report -- Stem Cell Transplantation for Adult-Onset Krabbe Disease: Report of a Case -- Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population -- Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS) -- An Exceptional Family with Three Consecutive Generations Affected by Wilson Disease -- Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet -- Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I -- A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein -- Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy -- Pyruvate Dehydrogenase-E1a Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation -- The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients -- Fatal and Unanticipated Cardiorespiratory Disease in a Two-Year-Old Child with Hurler Syndrome Following Successful Stem Cell Transplant |
| 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 |
| Analysis |
Medicine |
|
Human genetics |
|
Human physiology |
|
Metabolic diseases |
|
Pediatrics |
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Biomedicine |
|
stofwisselingsstoornissen |
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metabolic disorders |
|
biomedische wetenschappen |
|
pediatrie |
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paediatrics |
|
fysiologie |
|
physiology |
|
humane genetica |
|
Medicine (General) |
|
Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
| In |
Springer eBooks |
| Subject |
Metabolism, Inborn errors of -- Research
|
|
Metabolism, Inborn errors of.
|
|
Metabolism, Inborn Errors
|
|
medicines (material)
|
|
MEDICAL -- Endocrinology & Metabolism.
|
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MEDICAL -- Nutrition.
|
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Médecine.
|
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Metabolism, Inborn errors of
|
| Form |
Electronic book
|
| Author |
Zschocke, Johannes.
|
|
Gibson, Kenneth Michael, 1955-
|
|
Brown, Garry (Biochemistry)
|
|
Morava, Eva
|
| ISBN |
9783642373343 |
|
3642373348 |
|
364237333X |
|
9783642373336 |
|
