Screen LibraryJIMD reports-- Case and research reports. 2012/6
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| Corporate Authors: | |
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| Group Author: | ; ; ; |
| Published: |
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| Literature type: | Electronic eBook |
| Language: | English |
| Series: |
JIMD Reports ;
9 |
| Subjects: | |
| Online Access: |
http://dx.doi.org/10.1007/978-3-642-35518-9 |
| Carrier Form: | 1 online resource (vi, 142 p.) |
| ISBN: |
9783642355189 (electronic bk.) 3642355188 (electronic bk.) |
| Index Number: | RC627 |
| CLC: | R589 |
| Contents: |
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency / Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease / Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation / Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH₄) / Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease / Molecular Genetics and Genotype-Based Estimation of BH₄-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S / |