JIMD Reports, Volume 36
| Corporate Author: | |
|---|---|
| Other Authors: | , , , , , |
| Format: | eBook |
| Language: | English |
| Published: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
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| Edition: | 1st ed. 2017. |
| Series: | JIMD Reports,
36 |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/978-3-662-56138-6 |
Table of Contents:
- False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach
- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C
- Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS
- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
- The Spectrum of Niemann-Pick Type C Disease in Greece
- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
- A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
- Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
- Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
- Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
- Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
- An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom
- Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology
- Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.