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 到查詢結果 [ subject:"Human Genetics." ]

切換: 標籤 | MARC模式 | ISBD

JIMD reports.Volume 43

Morava, Eva.

JIMD reports.Volume 43

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, 124 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
標題:	Human genetics.
電子資源:	https://doi.org/10.1007/978-3-662-58614-3
ISBN:	9783662586143$q(electronic bk.)

JIMD reports.Volume 43
JIMD reports.Volume 43[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2019. - vi, 124 p. :ill., digital ;24 cm. - JIMD reports,v.432192-8304 ;. - JIMD reports ;v.2..

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study -- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report -- Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency -- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation -- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice -- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period -- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations -- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion -- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain -- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency -- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants -- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)

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: 9783662586143$q(electronic bk.)

Standard No.: 10.1007/978-3-662-58614-3doiSubjects--Topical Terms:

192904
Human genetics.

LC Class. No.: QH431

Dewey Class. No.: 611.01816

JIMD reports.Volume 43
LDR:02874nmm a2200337 a 4500 001 555036
003 DE-He213
005 20190619164939.0
006 m d
007 cr nn 008maaau
008 191121s2019 gw s 0 eng d
020 $a 9783662586143$q(electronic bk.)
020 $a 9783662586136$q(paper)
024 7 $a 10.1007/978-3-662-58614-3 $2 doi
035 $a 978-3-662-58614-3
040 $a GP $c GP
041 0 $a eng
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
090 $a QH431 $b .J61 2019
245 0 0 $a JIMD reports. $n Volume 43 $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, 124 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.43
505 0 $a Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study -- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report -- Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency -- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation -- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice -- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period -- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations -- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion -- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain -- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency -- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants -- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
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/10.1007/978-3-662-58614-3
950 $a Biomedical and Life Sciences (Springer-11642)