國立高雄大學圖資館 |

語系: 繁體中文

說明(常見問題)

圖資館首頁

登入

回首頁

切換: 標籤 | MARC模式 | ISBD

JIMD reports.Volume 44

Morava, Eva.

JIMD reports.Volume 44

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	JIMD reports.edited by Eva Morava ... [et al.].
其他作者:	Morava, Eva.
出版者:	Berlin, Heidelberg :Springer Berlin Heidelberg :2019.
面頁冊數:	vi, 119 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
標題:	Human genetics.
電子資源:	https://doi.org/10.1007/978-3-662-58617-4
ISBN:	9783662586174$q(electronic bk.)

JIMD reports.Volume 44
JIMD reports.Volume 44[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2019. - vi, 119 p. :ill., digital ;24 cm. - JIMD reports,v.442192-8304 ;. - JIMD reports ;v.2..

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy -- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second Case of Saposin A Deficiency and Altered Autophagy -- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients -- Cobalamin D Deficiency Identified Through Newborn Screening -- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties -- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients -- Enzyme Replacement Therapy During Pregnancy in Fabry Patients -- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort -- Reversible Cerebral White Matter Abnormalities in Homocystinuria.

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: 9783662586174$q(electronic bk.)

Standard No.: 10.1007/978-3-662-58617-4doiSubjects--Topical Terms:

192904
Human genetics.

LC Class. No.: QH431 / .J563 2019

Dewey Class. No.: 611.01816

JIMD reports.Volume 44
LDR:02688nmm a2200337 a 4500 001 555037
003 DE-He213
005 20190619163859.0
006 m d
007 cr nn 008maaau
008 191121s2019 gw s 0 eng d
020 $a 9783662586174$q(electronic bk.)
020 $a 9783662586167$q(paper)
024 7 $a 10.1007/978-3-662-58617-4 $2 doi
035 $a 978-3-662-58617-4
040 $a GP $c GP
041 0 $a eng
050 4 $a QH431 $b .J563 2019
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
090 $a QH431 $b .J61 2019
245 0 0 $a JIMD reports. $n Volume 44 $h [electronic resource] / $c edited by Eva Morava ... [et al.].
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2019.
300 $a vi, 119 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.44
505 0 $a A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy -- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy -- Psychosocial Functioning in Parents of MPS III Patients -- The Second Case of Saposin A Deficiency and Altered Autophagy -- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study -- Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients -- Cobalamin D Deficiency Identified Through Newborn Screening -- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties -- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients -- Enzyme Replacement Therapy During Pregnancy in Fabry Patients -- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort -- Reversible Cerebral White Matter Abnormalities in Homocystinuria.
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 192904
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/10.1007/978-3-662-58617-4
950 $a Biomedical and Life Sciences (Springer-11642)