Screen LibraryJIMD reports-- case and research reports. 2012/5 /
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.
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| Corporate Authors: | |
|---|---|
| Group Author: | ; ; |
| Published: |
Springer,
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| Publisher Address: | Heidelberg ; New York : |
| Publication Dates: | 2013. |
| Literature type: | eBook |
| Language: | English |
| Series: |
JIMD reports ;
v.8 |
| Subjects: | |
| Online Access: |
http://dx.doi.org/10.1007/978-3-642-33433-7 |
| 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. |
| Carrier Form: | 1 online resource. |
| Bibliography: | Includes bibliographical references. |
| ISBN: |
9783642334337 (electronic bk.) 3642334334 (electronic bk.) |
| Index Number: | RC627 |
| CLC: | R589 |
| Contents: |
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity / The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE / A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine / ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients / Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome? / A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders / Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease / Inheritance of the m.3243A>G mutation / Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage / cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period / Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs / Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease / Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency / Fabry Disease in Latin America: Data from the Fabry Registry / Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT / A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria / Neonatal Bone Marrow Transplantation in MPS IIIA Mice / Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency / Barriers to Transplantation in Adults with Inborn Errors of Metabolism / Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 / |