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. |
內容註: |
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. |
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 |