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| 书名： | JIMD Reports - Case and Research Reports, 2012/4 | |
|---|---|---|
| 作者： | Garry Brown,Eva Morava,Verena Peters,K Michael Gibson,Johannes Zschocke | |
| 出版时间： | 2013-01-01 | |
| ISBN： | 9783642324413(P-ISBN) ，9783642324420(O-ISBN) | |
| 摘要： | ||
| 摘要： | ||
书目详情：
Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein DeficiencyTemporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss in Fabry Disease?Hereditary Intrinsic Factor Deficiency in ChaldeansMutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL GeneCholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA DeficiencyQuality of Life of Brazilian Patients with Gaucher Disease and Fabry DiseaseIdentification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseSuccessful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo TransferThe Transforming Growth Factor-Beta Signaling Pathway Involvement in Cardiovascular Lesions in Mucopolysaccharidosis-IRecommendations for Pregnancies in Patients with Crigler-Najjar SyndromeAutism Spectrum Disorder in a Child with Propionic AcidemiaUrinary Neopterin and Phenylalanine Loading Test as Tools for the Biochemical Diagnosis of Segawa Diseaseβ-Galactosidosis in Patient with Intermediate GM1 and MBD PhenotypeIn Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed TomographyA 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 DiseaseHigh Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated AsparaginaseNutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKUDid the Temporary Shortage in Supply of Imiglucerase Have Clinical Consequences? Retrospective Observational Study on 34 Italian Gaucher Type I Patients5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
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