國立虎尾科技大學 |

JIMD reports.. Volume 34

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 : : 2017.,
Description:	vi, 115 p. :ill. (some col.), digital ; : 24 cm.;
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of. -
Online resource:	http://dx.doi.org/10.1007/978-3-662-55586-6
ISBN:	9783662555866

JIMD reports.. Volume 34
JIMD reports.Volume 34[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2017. - vi, 115 p. :ill. (some col.), digital ;24 cm. - JIMD reports,342192-8304 ;. - JIMD reports ;v.6..

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype -- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs -- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014 -- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations -- Phenotype and Genotype Expansion -- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review -- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen -- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients -- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion Reactions to Enzyme Replacement Therapies -- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder -- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria -- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables -- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis -- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) 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: 9783662555866

Standard No.: 10.1007/978-3-662-55586-6doiSubjects--Topical Terms:

885710
Metabolism, Inborn errors of.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

JIMD reports.. Volume 34
LDR:02958nam a2200325 a 4500 001 922779
003 DE-He213
005 20170713142411.0
006 m d
007 cr nn 008maaau
008 190625s2017 gw s 0 eng d
020 $a 9783662555866 $q (electronic bk.)
020 $a 9783662555859 $q (paper)
024 7 $a 10.1007/978-3-662-55586-6 $2 doi
035 $a 978-3-662-55586-6
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 2017
245 0 0 $a JIMD reports. $n Volume 34 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $c 2017. $b Springer Berlin Heidelberg : $b Imprint: Springer,
300 $a vi, 115 p. : $b ill. (some col.), digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v 34
505 0 $a Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype -- Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs -- The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014 -- DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations -- Phenotype and Genotype Expansion -- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review -- Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen -- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients -- Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency -- Delayed Infusion Reactions to Enzyme Replacement Therapies -- Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder -- Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria -- Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables -- Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease -- Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis -- Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) 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 ; $v v.6. $3 885709
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-55586-6
950 $a Biomedical and Life Sciences (Springer-11642)