JIMD Reports, Volume 28 /
| Corporate Author: | |
|---|---|
| Other Authors: | , , , , , |
| Format: | eBook |
| Language: | English |
| Published: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2016.
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| Edition: | 1st ed. 2016. |
| Series: | JIMD Reports,
28 |
| Subjects: |
Table of Contents:
- Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency
- Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate
- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy
- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?
- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease
- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease
- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS
- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice
- In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease
- In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History
- Multiple, Successful Pregnancies in Pompe Disease
- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).