JIMD Reports, Volume 34 /
| Corporate Author: | |
|---|---|
| Other Authors: | , , , , , |
| Format: | eBook |
| Language: | English |
| Published: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
|
| Edition: | 1st ed. 2017. |
| Series: | JIMD Reports,
34 |
| Subjects: |
Table of Contents:
- Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype
- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs
- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014
- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations
- Phenotype and Genotype Expansion
- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review
- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients
- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
- Delayed Infusion Reactions to Enzyme Replacement Therapies
- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria
- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance
- COXPD9 an Evolving Multisystem Disease
- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis
- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.