JIMD Reports, Volume 30

JIMD Reports, Volume 30

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, 2016.
Edición:1st ed. 2016.
Colección:JIMD Reports, 30
Materias:
Human genetics.
Metabolic diseases.
Pediatrics.
Molecular biology.
Human Genetics.
Metabolic Diseases.
Molecular Medicine.
Acceso en línea:https://doi.org/10.1007/978-3-662-53681-0
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245 1 0 |a JIMD Reports, Volume 30  |c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. 
250 |a 1st ed. 2016. 
260 # # |a Berlin, Heidelberg :  |b Springer Berlin Heidelberg :  |b Imprint: Springer,  |c 2016. 
300 |a VI, 108 p. 20 illus., 13 illus. in color.  |b online resource. 
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490 1 |a JIMD Reports,  |v 30 
505 0 |a 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. 
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/10.1007/978-3-662-53681-0 

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