JIMD Reports, Volume 30
| Autor Corporativo: | |
|---|---|
| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2016.
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| Edición: | 1st ed. 2016. |
| Colección: | JIMD Reports,
30 |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1007/978-3-662-53681-0 |
Tabla de Contenidos:
- Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I
- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome
- A New Approach for Fast Metabolic Diagnostics in CMAMMA
- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum
- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis
- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria
- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor
- Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency
- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency
- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV
- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures
- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.