國立高雄大學圖資館 |

Language: English

Back

JIMD Reports.Volume 42

Morava, Eva.

JIMD Reports.Volume 42

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 :2018.
Description:	vi, 119 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of.
Online resource:	https://doi.org/10.1007/978-3-662-58365-4
ISBN:	9783662583654$q(electronic bk.)

JIMD Reports.Volume 42
JIMD Reports.Volume 42[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2018. - vi, 119 p. :ill. (some col.), digital ;24 cm. - JIMD reports,v.422192-8304 ;. - JIMD reports ;v.2..

Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa -- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders -- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair -- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria -- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops -- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis -- Mitochondrial Disease in Children: The Nephrologist's Perspective -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients -- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis -- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review -- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.

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: 9783662583654$q(electronic bk.)

Standard No.: 10.1007/978-3-662-58365-4doiSubjects--Topical Terms:

558886
Metabolism, Inborn errors of.

LC Class. No.: RC627.8 / .J563 2018

Dewey Class. No.: 616.39042

JIMD Reports.Volume 42
LDR:03013nmm a2200337 a 4500 001 547169
003 DE-He213
005 20190423135809.0
006 m d
007 cr nn 008maaau
008 190709s2018 gw s 0 eng d
020 $a 9783662583654$q(electronic bk.)
020 $a 9783662583647$q(paper)
024 7 $a 10.1007/978-3-662-58365-4 $2 doi
035 $a 978-3-662-58365-4
040 $a GP $c GP $e rda
041 0 $a eng
050 4 $a RC627.8 $b .J563 2018
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
072 7 $a MFN $2 thema
082 0 4 $a 616.39042 $2 23
090 $a RC627.8 $b .J61 2018
245 0 0 $a JIMD Reports. $n Volume 42 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2018.
300 $a vi, 119 p. : $b ill. (some col.), digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.42
505 0 $a Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa -- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders -- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair -- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria -- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops -- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis -- Mitochondrial Disease in Children: The Nephrologist's Perspective -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients -- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis -- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review -- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
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 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 https://doi.org/10.1007/978-3-662-58365-4
950 $a Biomedical and Life Sciences (Springer-11642)