JIMD Reports, Volume 37

JIMD Reports, Volume 37

Detalles Bibliográficos
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Morava, Eva. (Editor ), Baumgartner, Matthias. (Editor ), Patterson, Marc. (Editor ), Rahman, Shamima. (Editor ), Zschocke, Johannes. (Editor ), Peters, Verena. (Editor )
Formato: eBook
Lenguaje:English
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2017.
Edición:1st ed. 2017.
Colección:JIMD Reports, 37
Materias:
Human genetics.
Metabolic diseases.
Pediatrics.
Molecular biology.
Human Genetics.
Metabolic Diseases.
Molecular Medicine.
Acceso en línea:https://doi.org/10.1007/978-3-662-56359-5
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040 |a Sistema de Bibliotecas del Tecnológico de Costa Rica 
245 1 0 |a JIMD Reports, Volume 37  |c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. 
250 |a 1st ed. 2017. 
260 # # |a Berlin, Heidelberg :  |b Springer Berlin Heidelberg :  |b Imprint: Springer,  |c 2017. 
300 |a VI, 123 p.  |b online resource. 
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490 1 |a JIMD Reports,  |v 37 
505 0 |a 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. 
650 0 |a Human genetics. 
650 0 |a Metabolic diseases. 
650 0 |a Pediatrics. 
650 0 |a Molecular biology. 
650 1 4 |a Human Genetics. 
650 2 4 |a Metabolic Diseases. 
650 2 4 |a Pediatrics. 
650 2 4 |a Molecular Medicine. 
700 1 |a Morava, Eva.  |e editor. 
700 1 |a Baumgartner, Matthias.  |e editor. 
700 1 |a Patterson, Marc.  |e editor. 
700 1 |a Rahman, Shamima.  |e editor. 
700 1 |a Zschocke, Johannes.  |e editor. 
700 1 |a Peters, Verena.  |e editor. 
710 2 |a SpringerLink (Online service) 
773 0 |t Springer eBooks 
856 4 0 |u https://doi.org/10.1007/978-3-662-56359-5 

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