JIMD Reports, Volume 37
| Autor Corporativo: | |
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| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
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| Edición: | 1st ed. 2017. |
| Colección: | JIMD Reports,
37 |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1007/978-3-662-56359-5 |
Tabla de Contenidos:
- Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
- Galactose Epimerase Deficiency: Expanding the Phenotype
- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy
- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
- Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
- The Impact of Fabry Disease on Reproductive Fitness
- Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
- Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)
- Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.