國立虎尾科技大學 |

JIMD Reports, Volume 27

Record Type:	Language materials, printed : Monograph/item
Title/Author:	JIMD Reports, Volume 27/ edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
other author:	Morava, Eva.
Description:	VI, 112 p. 28 illus., 14 illus. in color.online resource. :
Contained By:	Springer Nature eBook
Subject:	Human genetics. -
Online resource:	https://doi.org/10.1007/978-3-662-50409-3
ISBN:	9783662504093

JIMD Reports, Volume 27
JIMD Reports, Volume 27[electronic resource] /edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. - 1st ed. 2016. - VI, 112 p. 28 illus., 14 illus. in color.online resource. - JIMD Reports,272192-8304 ;. - JIMD Reports,21.

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

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

596505
Human genetics.

LC Class. No.: RB155-155.8

Dewey Class. No.: 611.01816

JIMD Reports, Volume 27
LDR:03413nam a22004215i 4500 001 974356
003 DE-He213
005 20200702173853.0
007 cr nn 008mamaa
008 201211s2016 gw | s |||| 0|eng d
020 $a 9783662504093 $9 978-3-662-50409-3
024 7 $a 10.1007/978-3-662-50409-3 $2 doi
035 $a 978-3-662-50409-3
050 4 $a RB155-155.8
050 4 $a QH431
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
072 7 $a MFN $2 thema
082 0 4 $a 611.01816 $2 23
082 0 4 $a 599.935 $2 23
245 1 0 $a JIMD Reports, Volume 27 $h [electronic resource] / $c edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250 $a 1st ed. 2016.
264 1 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2016.
300 $a VI, 112 p. 28 illus., 14 illus. in color. $b online resource.
336 $a text $b txt $2 rdacontent
337 $a computer $b c $2 rdamedia
338 $a online resource $b cr $2 rdacarrier
347 $a text file $b PDF $2 rda
490 1 $a JIMD Reports, $x 2192-8304 ; $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 Human genetics. $3 596505
650 0 $a Metabolic diseases. $3 1253620
650 0 $a Pediatrics. $3 644839
650 0 $a Molecular biology. $3 583443
650 1 4 $a Human Genetics. $3 593893
650 2 4 $a Metabolic Diseases. $3 593967
650 2 4 $a Molecular Medicine. $3 668353
700 1 $a Morava, Eva. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1072062
700 1 $a Baumgartner, Matthias. $e editor. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1253616
700 1 $a Patterson, Marc. $e editor. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1253617
700 1 $a Rahman, Shamima. $e editor. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1253618
700 1 $a Zschocke, Johannes. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1023936
700 1 $a Peters, Verena. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1072628
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer Nature eBook
776 0 8 $i Printed edition: $z 9783662504086
776 0 8 $i Printed edition: $z 9783662504109
830 0 $a JIMD Reports, $x 2192-8304 ; $v 21 $3 1253619
856 4 0 $u https://doi.org/10.1007/978-3-662-50409-3
912 $a ZDB-2-SBL
912 $a ZDB-2-SXB
950 $a Biomedical and Life Sciences (SpringerNature-11642)
950 $a Biomedical and Life Sciences (R0) (SpringerNature-43708)