Journal of Inherited Metabolic Disease

Công bố khoa học tiêu biểu

* Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp:  
Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria
Journal of Inherited Metabolic Disease - Tập 23 - Trang 520-522 - 2000
C. Randak, W. Röschinger, B. Rolinski, H.-B. Hadorn, D. A. Applegarth, A. A. Roscher
Decreased procollagen production in cultured fibroblasts from patients with Lowe's syndrome
Journal of Inherited Metabolic Disease - - 1985
Michael J. Palmieri, Julia A. O’Hara, Beatrice States, Stanton Segal
AbstractThe oculo‐cerebro‐renal syndrome described by Lowe is a catastrophic disease in children characterized by progressive eye, central nervous system and kidney degeneration. We determined procollagen production in cultured skin fibroblasts originating from patients with Lowe's syndrome as well as normal individuals after incubation of cells with [14<...... hiện toàn bộ
Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family
Journal of Inherited Metabolic Disease - Tập 29 - Trang 203-204 - 2006
C. Sansaricq, S. Pardo, M. Balwani, M. Grace, K. Raymond
A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.
Carrier detection for Sanfilippo A syndrome
Journal of Inherited Metabolic Disease - Tập 13 Số 2 - Trang 184-186 - 1990
Judith V. Stone, A. Brimble, C. A. Pennock
SummaryLeukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1.) at 55°C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.
5α-Reductase deficiency in patients with micropenis
Journal of Inherited Metabolic Disease - Tập 20 - Trang 95-101 - 1997
Y. Z. Gad, H. Nasr, I. Mazen, N. Salah, R. El-Ridi
The enzyme 5α-reductase (5αR), by virtue of its peripheral 5α-reduction of testosterone (T) to dihydrotestosterone (DHT), is believed to play a major role in the differentiation and the subsequent growth of the penis. However, recent studies have reported 5αR deficiency (5αRD) in patients with isolated micropenis and hypothesized that 5αRD is not invariably associated with genital ambiguity. In Eg...... hiện toàn bộ
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients
Journal of Inherited Metabolic Disease - Tập 28 - Trang 1123-1131 - 2005
K. B. Gomes, V. Cavalcanti Pardini, A. Clayton de Souza Ferreira, A. P. Fernandes
The Berardinelli–Seip congenital lipodystrophy (BSCL) syndrome is characterized by a near-total congenital absence of fat and predisposition to develop diabetes mellitus. We have previously reported that 22 patients from 16 consanguineous pedigrees living in the northeastern region of Brazil had a homozygous 669insA mutation in the Seipin gene (BSCL2 locus), while all of the 10 investigated subjec...... hiện toàn bộ
Variation of lysosomal enzyme activity with gestational age in chorionic villi
Journal of Inherited Metabolic Disease - Tập 13 - Trang 862-866 - 1990
M. Fukuda, A. Tanaka, G. Isshiki
The activities of 14 lysosomal enzymes in chorionic villi at gestational ages of 6–12 weeks were assayed. Arylsulphatases A and B, α-glucosidase and β-glucuronidase activities increased with advancing gestational age. When compared with the activity in cultured amniotic fluid cells, arylsulphatase A, β-galactosidase, α-glucosidase, heparan N-sulphatase, α-l-iduronidase, α-mannosidase, neuraminidas...... hiện toàn bộ
Rối loạn vận động hậu synapse: các kiểu hình lâm sàng, kiểu gen và cơ chế bệnh lý Dịch bởi AI
Journal of Inherited Metabolic Disease - Tập 41 - Trang 1077-1091 - 2018
Lucia Abela, Manju A. Kurian
Rối loạn vận động bao gồm một nhóm các bệnh đa dạng với các kiểu hình lâm sàng thường phức tạp. Các triệu chứng chồng chéo và sự thiếu hụt các biomarker chẩn đoán có thể cản trở việc đưa ra chẩn đoán chính xác. Các kỹ thuật giải trình tự thế hệ mới đã đóng góp đáng kể vào việc tìm hiểu các nguyên nhân di truyền gây ra rối loạn vận động và do đó đã cải thiện khả năng chẩn đoán. Sự thiếu hụt trong t...... hiện toàn bộ
#Rối loạn vận động; kiểu hình lâm sàng; di truyền; cơ chế bệnh lý; tín hiệu dopamine
Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis
Journal of Inherited Metabolic Disease - Tập 34 - Trang 101-109 - 2010
Susan J. Duthie
Inappropriate diet may contribute to one third of cancer deaths. Folates, a group of water-soluble B vitamins present in high concentrations in green, leafy vegetables, maintain DNA stability through their ability to donate one-carbon units for cellular metabolism. Folate deficiency has been implicated in the development of several cancers, including cancer of the colorectum, breast, ovary, pancre...... hiện toàn bộ
Komrower Lecture: New names for old disciplines
Journal of Inherited Metabolic Disease - Tập 25 - Trang 139-156 - 2002
H. Galjaard
Since the completion of the human genome map, genomics, proteomics and pharmacogenomics have become popular headings. In this review some 40 years of development in research and laboratory diagnosis of inborn errors of metabolism are summarized. It is shown that collaborative approaches of clinicians, geneticists, pathologists, biochemists and molecular biologists have contributed significantly to...... hiện toàn bộ
Tổng số: 3,624   
  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • 10