Journal of Inherited Metabolic Disease
SCIE-ISI SCOPUS (1978-2023)
1573-2665
0141-8955
Cơ quản chủ quản: Springer Netherlands , WILEY
Lĩnh vực:
Genetics (clinical)Genetics
Các bài báo tiêu biểu
Mitochondrial complex I: Structure, function and pathologySummary Oxidative phosphorylation (OXPHOS) has a prominent role in energy metabolism of the cell. Being under bigenomic control, correct biogenesis and functioning of the OXPHOS system is dependent on the finely tuned interaction between the nuclear and the mitochondrial genome. This suggests that disturbances of the system can be caused by numerous genetic defects ... ... hiện toàn bộ
- 2006
The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statementAbstract N ‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB‐DNJ in patients with Gaucher's disease demonstrate the therapeutic potential of such substrate inhibitors in...
Tập 26 Số 6 - Trang 513-526 - 2003
Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseAbstract Summary: It has been shown that treatment with miglustat (Zavesca, N ‐butyldeoxynojirimycin, OGT 918) improves key clinical features of type I Gaucher disease after 1 year of treatment. This study reports longer‐term efficacy and safety data. Patients who had completed 12 months of treatment with open‐label m...
Tập 27 Số 6 - Trang 757-766 - 2004
Adrenoleukodystrophy: Biến thể hình thái và những hệ lụy đối với liệu pháp điều trị Dịch bởi AI Tóm tắt Bệnh adrenoleukodystrophy liên liên gen X (ALD) là một rối loạn tương đối phổ biến, thể hiện sự biến thể hình thái lớn. Khoảng một nửa số bệnh nhân mắc dạng bệnh não nhanh tiến triển ở trẻ em, có liên quan đến phản ứng viêm trong não, dẫn đến tàn tật toàn phần hoặc tử vong trong thập kỷ đầu tiên. Hai mươi lăm phần trăm hoặc hơn trong số bệnh nhân có dạng adr... ... hiện toàn bộ
- 1992
Neonatal screening in Europe; the situation in 2004Summary This report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of Europe plus the regions Scotland and Wales (in total 47 ‘countries’), no data at all were available from 3 (Albania, Azerbaijan and Georgia). From the other 44, varying amounts of data were received. Apart from Armenia, Finland and Malta, al... ... hiện toàn bộ
- 2007
Complex lipid trafficking in Niemann‐Pick disease type CAbstract Niemann‐Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from mutations in one of two genes, either NPC1 or NPC2 . Although a neurovisceral disorder, it is above all a neurodegenerative disease in the vast majority of patients. Not an enzyme deficiency, it is currently conceive... ... hiện toàn bộ
- 2015
The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick diseaseSummary Patients with types A and B Niemann–Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non‐neurological form (type B NPD) that is compatible with survival into adulthood. Interme... ... hiện toàn bộ
- 2007
Methylmalonic and propionic acidaemias: Management and outcomeSummary Organic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which we have better knowledge of the long‐term outcome. Comparing the outcome of patients born before and after 1990, it appears that better neonatal and long‐term manage... ... hiện toàn bộ
Tập 28 Số 3 - Trang 415-423 - 2005
L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?Abstract A 5‐year‐old boy, excreting large amounts of 2‐hydroxyglutaric acid in the urine (3.3–7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2‐year‐old children. There was a severe anaemia, which reacted well to iron supplem... ... hiện toàn bộ
- 1980
Phenylketonuria in adulthood: A collaborative studyAbstract During 1967–1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on newborn screening as having phenylketonuria (PKU). Subsequently, financial support was provided by the National Institute of Child Health and Human Development (NICHD). The infants were treated with a pheny... ... hiện toàn bộ
- 2002