國立高雄大學圖資館 |

Language: English

Back

JIMD reports.Volume 27

Morava, Eva.

JIMD reports.Volume 27

Record Type:	Electronic resources : 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, 112 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of.
Online resource:	http://dx.doi.org/10.1007/978-3-662-50409-3
ISBN:	9783662504093$q(electronic bk.)

JIMD reports.Volume 27
JIMD reports.Volume 27[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2016. - vi, 112 p. :ill., digital ;24 cm. - JIMD reports,v.272192-8304 ;. - JIMD reports ;v.2..

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype.

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: 9783662504093$q(electronic bk.)

Standard No.: 10.1007/978-3-662-50409-3doiSubjects--Topical Terms:

558886
Metabolism, Inborn errors of.

LC Class. No.: RC627.8

Dewey Class. No.: 616.39042

JIMD reports.Volume 27
LDR:02914nmm a2200325 a 4500 001 489006
003 DE-He213
005 20161019154120.0
006 m d
007 cr nn 008maaau
008 161213s2016 gw s 0 eng d
020 $a 9783662504093$q(electronic bk.)
020 $a 9783662504086$q(paper)
024 7 $a 10.1007/978-3-662-50409-3 $2 doi
035 $a 978-3-662-50409-3
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 27 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2016.
300 $a vi, 112 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.27
505 0 $a Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion -- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency -- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders -- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) -- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD) -- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles -- IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia -- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency -- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction -- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice -- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 -- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group -- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs) -- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency -- Further Delineation of the ALG9-CDG Phenotype.
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 558886
650 0 $a Metabolism $x Disorders. $3 318679
650 1 4 $a Biomedicine. $3 273648
650 2 4 $a Human Genetics. $3 273658
650 2 4 $a Metabolic Diseases. $3 274217
650 2 4 $a Pediatrics. $3 274247
650 2 4 $a Molecular Medicine. $3 273932
700 1 $a Morava, Eva. $3 744346
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
830 0 $a JIMD reports ; $v v.2. $3 558861
856 4 0 $u http://dx.doi.org/10.1007/978-3-662-50409-3
950 $a Biomedical and Life Sciences (Springer-11642)