國立虎尾科技大學 |

JIMD Reports, Volume 30

Record Type:	Language materials, printed : Monograph/item
Title/Author:	JIMD Reports, Volume 30/ edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
other author:	Morava, Eva.
Description:	VI, 108 p. 20 illus., 13 illus. in color.online resource. :
Contained By:	Springer Nature eBook
Subject:	Human genetics. -
Online resource:	https://doi.org/10.1007/978-3-662-53681-0
ISBN:	9783662536810

JIMD Reports, Volume 30
JIMD Reports, Volume 30[electronic resource] /edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters. - 1st ed. 2016. - VI, 108 p. 20 illus., 13 illus. in color.online resource. - JIMD Reports,302192-8304 ;. - JIMD Reports,21.

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.

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: 9783662536810

Standard No.: 10.1007/978-3-662-53681-0doiSubjects--Topical Terms:

596505
Human genetics.

LC Class. No.: RB155-155.8

Dewey Class. No.: 611.01816

JIMD Reports, Volume 30
LDR:03435nam a22004215i 4500 001 975571
003 DE-He213
005 20200630102230.0
007 cr nn 008mamaa
008 201211s2016 gw | s |||| 0|eng d
020 $a 9783662536810 $9 978-3-662-53681-0
024 7 $a 10.1007/978-3-662-53681-0 $2 doi
035 $a 978-3-662-53681-0
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 30 $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, 108 p. 20 illus., 13 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 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.
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 9783662536803
776 0 8 $i Printed edition: $z 9783662536827
830 0 $a JIMD Reports, $x 2192-8304 ; $v 21 $3 1253619
856 4 0 $u https://doi.org/10.1007/978-3-662-53681-0
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)