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 45

Morava, Eva.

JIMD reports.Volume 45

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, 110 p. :ill., digital ;24 cm.
Contained By:	Springer eBooks
標題:	Metabolism, Inborn errors of.
電子資源:	https://doi.org/10.1007/978-3-662-58647-1
ISBN:	9783662586471$q(electronic bk.)

JIMD reports.Volume 45
JIMD reports.Volume 45[electronic resource] /edited by Eva Morava ... [et al.]. - Berlin, Heidelberg :Springer Berlin Heidelberg :2019. - vi, 110 p. :ill., digital ;24 cm. - JIMD reports,v.452192-8304 ;. - JIMD reports ;v.2..

I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease -- Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency -- Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases -- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy -- The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism -- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV -- Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy -- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 -- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency -- Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series -- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency -- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation -- Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant -- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? -- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.

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: 9783662586471$q(electronic bk.)

Standard No.: 10.1007/978-3-662-58647-1doiSubjects--Topical Terms:

558886
Metabolism, Inborn errors of.

LC Class. No.: RC627.8 / .J563 2019

Dewey Class. No.: 616.39042

JIMD reports.Volume 45
LDR:03066nmm a2200337 a 4500 001 555041
003 DE-He213
005 20190619163518.0
006 m d
007 cr nn 008maaau
008 191121s2019 gw s 0 eng d
020 $a 9783662586471$q(electronic bk.)
020 $a 9783662586464$q(paper)
024 7 $a 10.1007/978-3-662-58647-1 $2 doi
035 $a 978-3-662-58647-1
040 $a GP $c GP
041 0 $a eng
050 4 $a RC627.8 $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 616.39042 $2 23
090 $a RC627.8 $b .J61 2019
245 0 0 $a JIMD reports. $n Volume 45 $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, 110 p. : $b ill., digital ; $c 24 cm.
490 1 $a JIMD reports, $x 2192-8304 ; $v v.45
505 0 $a I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the Disease -- Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency -- Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases -- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience -- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy -- The Effect of Continuous Intravenous Glucagon on Glucose Requirements in Infants with Congenital Hyperinsulinism -- Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV -- Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy -- Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1 -- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency -- Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series -- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency -- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation -- Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant -- Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? -- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
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/10.1007/978-3-662-58647-1
950 $a Biomedical and Life Sciences (Springer-11642)