| Description |
1 online resource (vii, 123 pages) : illustrations (some color) |
| Series |
JIMD reports, 2192-8304 ; v. 2 |
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JIMD reports ; v. 2.
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| Contents |
JIMD Reports -Case and Research Reports, 2011/2; Contents; Phenotype Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene; Abstract; Introduction; Patients and Methods; Results and Discussion; Take Home Message; References to Electronic Databases; Contributions of Individual Authors; Details of Funding; References; Cardiac Arrest in Kearns Sayre Syndrome; Abstract; Introduction; Case Reports; Patient 1; Patient 2; Review of the Reported Cases; Discussion; References; Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated; Abstract |
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IntroductionCase Report; Discussion; Synopsis; References; Carpal Tunnel Syndrome in Fabry Disease; Abstract; Introduction; Patient 1; Patient 2; Patient 3; Discussion; Conclusion; Synopsis; References; A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene; Abstract; Introduction; Patient and Methods; Case Report; DNA Sequencing; Results and Discussion; References; Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?; Abstract; Introduction; Case Report; Discussion; References |
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Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I SyndromeAbstract; Introduction; Case Report; Discussion; References; Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency; Abstract; Introduction; Materials and Methods; Formula; Gene Analysis; Patient 1; Patient 2; Patient 3; Patient 4; Results and Discussion; Take-Home Message; References to Electronic Databases; References |
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Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial HypercholesterolaemiaAbstract; Introduction; Case Presentation; Discussion; Conclusion; Synopsis; References; The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder; Abstract; Introduction; Materials and Methods; Results; Experience of Dental Caries; Gingival Health; Opacities and Enamel Defects; Oral Health Maintenance; Discussion; Summary; Synopsis; References; Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of |
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AbstractIntroduction; Materials and Methods; Cell Culture and Treatments; Mutational Analysis; Extraction of RNA, cDNA Synthesis and PCR Analysis; Real-Time Quantitative PCR; Western Blot Analysis; Filipin Staining; Immunolocalization of NPC1 Protein; GM1 Staining; Results; Discussion; Synopsis; References; 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency:Identification of a New Mutation Causing; Abstract; Introduction; Case Report; Materials and Methods; Biochemical Evaluation; HADH Sequencing; Results; Biochemical Findings; Mutational Analysis; Discussion; Synopsis |
| 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 |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
| 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.
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| Form |
Electronic book
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| Author |
Society for the Study of Inborn Errors of Metabolism.
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| ISBN |
9783642247583 |
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364224758X |
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3642247571 |
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9783642247576 |
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