國立虎尾科技大學 |

JIMD reports.. Volume 29

Record Type:	Language materials, printed : Monograph/item
Title/Author:	JIMD reports./ edited by Eva Morava ... [et al.].
other author:	Morava, Eva.
Published:	Berlin, Heidelberg :Springer Berlin Heidelberg : : 2016.,
Description:	vi, 113 p. :ill. (some col.), digital ; : 24 cm.;
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of. -
Online resource:	http://dx.doi.org/10.1007/978-3-662-53278-2
ISBN:	9783662532782

JIMD reports.. Volume 29
JIMD reports.Volume 29[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2016. - vi, 113 p. :ill. (some col.), digital ;24 cm. - JIMD reports,2192-8304. - JIMD reports..

LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.

JIMD reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

ISBN: 9783662532782

Standard No.: 10.1007/978-3-662-53278-2doiSubjects--Topical Terms:

885710
Metabolism, Inborn errors of.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

JIMD reports.. Volume 29
LDR:03347nam a2200325 a 4500 001 866841
003 DE-He213
005 20160912193202.0
006 m d
007 cr nn 008maaau
008 170720s2016 gw s 0 eng d
020 $a 9783662532782 $q (electronic bk.)
020 $a 9783662532775 $q (paper)
024 7 $a 10.1007/978-3-662-53278-2 $2 doi
035 $a 978-3-662-53278-2
040 $a GP $c GP
041 0 $a eng
050 4 $a RC627.8
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
082 0 4 $a 616.39042 $2 23
090 $a RC627.8 $b .J61 2016
245 0 0 $a JIMD reports. $n Volume 29 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $c 2016. $b Springer Berlin Heidelberg : $b Imprint: Springer,
300 $a vi, 113 p. : $b ill. (some col.), digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304
505 0 $a LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance -- A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect -- Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis -- Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia -- CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome -- Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI -- Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse Brain -- A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts -- Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age -- The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis -- Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? -- Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation -- Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency -- Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants -- Erratum to: LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.
520 $a JIMD reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
650 0 $a Metabolism, Inborn errors of. $3 885710
650 0 $a Metabolism $x Disorders. $3 645499
650 1 4 $a Biomedicine. $3 593880
650 2 4 $a Human Genetics. $3 593893
650 2 4 $a Metabolic Diseases. $3 593967
650 2 4 $a Pediatrics. $3 644839
650 2 4 $a Molecular Medicine. $3 668353
700 1 $a Morava, Eva. $3 1072062
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer eBooks
830 0 $a JIMD reports. $3 1107441
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-53278-2
950 $a Biomedical and Life Sciences (Springer-11642)