Screen LibraryJIMD reports-- Case and research reports. 2012/4 /
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: | Berlin ; New York : |
| Publication Dates: | 2013. |
| Literature type: | eBook |
| Language: | English |
| Series: |
JIMD reports,
v.7 |
| Subjects: | |
| Online Access: |
http://dx.doi.org/10.1007/978-3-642-32442-0 |
| 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: |
9783642324420 (electronic bk.) 3642324428 (electronic bk.) |
| Index Number: | RC627 |
| CLC: | R589 |
| Contents: |
Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency / Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease? / Hereditary Intrinsic Factor Deficiency in Chaldeans / Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene / Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency / Quality of Life of Brazilian Patients with Gaucher Disease and Fabry Disease / Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease / Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer / The Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-I / Recommendations for Pregnancies in Patients with Crigler-Najjar Syndrome / Autism Spectrum Disorder in a Child with Propionic Acidemia / Urinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Disease / [beta]-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype / In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography / A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) / Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease / High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase / Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU / Did the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients / 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes / |