| Description |
1 online resource (vii, 139 pages) |
| Series |
JIMD reports, 2192-8304 ; v. 3 |
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JIMD reports ; v. 3.
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| Contents |
Machine generated contents note: Liver Failure with Coagulopathy, Hyperammonemia and Cyclic Vomiting in a Toddler Revealed to Have Combined Heterozygosity for Genes Involved with Ornithine Transcarbamylase Deficiency and Wilson Disease / Richard G. Boles -- Large Mitochondrial DNA Deletion in an Infant with Addison Disease / P.R. Harris -- Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark / Jentoft Olsen -- Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency / A. Dursun -- Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency / L. Christa -- Effect of Reduced Agalsidase Beta Dosage in Fabry Patients: The Australian Experience / Janice Fletcher -- Miglustat Treatment May Reduce Cerebrospinal Fluid Levels of the Axonal Degeneration Marker Tau in Niemann-Pick Type C / Kaj Blennow -- Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease / Per Svenningsson -- Differential Expression of Matrix Metalloproteinases in the Serum of Patients with Mucopolysaccharidoses / Eleni Papakonstantinou -- COG5-CDG with a Mild Neurohepatic Presentation / J. Jaeken -- Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations / Maurizio Arico -- Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy / Florian Eichler -- Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation / J.A. Bakker |
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Note continued: Hyperoxaluria and Rapid Development of Renal Failure Following a Combined Liver and Kidney Transplantation: Emphasis on Sequential Transplantation / Wasim F. Raslan -- Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications / Jose Angel Camacho -- Cerebral Edema in Maple Syrup Urine Disease Despite Newborn Screening Diagnosis and Early Initiation of Treatment / Aneal Khan -- Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1: Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry / Naomi Kondo -- Altered Carbon Dioxide Metabolism and Creatine Abnormalities in Rett Syndrome / Leopold M.G. Curfs -- Molecular Genetic Characterization of Novel Sphingomyelin Phosphodiesterase 1 Mutations Causing Niemann-Pick Disease / Laszlo Marodi |
| 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 |
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Human genetics |
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Metabolic diseases |
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Pediatrics |
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Biomedicine |
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pediatrie |
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paediatrics |
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fysiologie |
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physiology |
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biomedische wetenschappen |
|
stofwisselingsstoornissen |
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metabolic disorders |
|
humane genetica |
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Medicine (General) |
|
Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references |
| Subject |
Metabolism, Inborn errors of -- Case studies
|
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Metabolism, Inborn errors of -- Research
|
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Metabolism, Inborn errors of.
|
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Metabolism, Inborn Errors
|
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MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
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Médecine.
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Metabolism, Inborn errors of
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| Genre/Form |
Case studies
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Case studies.
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Études de cas.
|
| Form |
Electronic book
|
| Author |
Society for the Study of Inborn Errors of Metabolism.
|
| ISBN |
9783642249365 |
|
3642249361 |
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3642249353 |
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9783642249358 |
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9781280399527 |
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128039952X |
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