Journal of Inherited Metabolic Disease

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Novel mutations in patients with fructose‐1,6‐bisphosphatase deficiency
Journal of Inherited Metabolic Disease - Tập 22 Số 2 - Trang 132-138 - 1999
Birger Herzog, U. Wendel, A. A. M. Morris, Klaus Eschrich
AbstractFructose‐1,6‐bisphosphatase (FBPase) deficiency is an autosomal recessive disorder of gluconeogenesis. Mutations have recently been identified in Japanese patients but none has been reported in patients of other ethnic backgrounds. We have undertaken sequence analysis on genomic DNA isolated from leukocytes of four patients with FBPase deficiency. Homozygou...... hiện toàn bộ
Gene therapy for Fabry disease
Journal of Inherited Metabolic Disease - - 2001
C. Sitaskas, J. A. Medin
Fabry disease is an X-linked metabolic disorder caused by a deficiency ofα-galactosidase A (α-Gal A). Lack of this lysosomal hydrolase results in theaccumulation of galactose-terminal glycosphingolipids in a number of tissues,including vascular endothelial cells. Premature death is predominantly associated withvascular conditions of the heart, kidneys and brain. Historically, treatment has largely...... hiện toàn bộ
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
Journal of Inherited Metabolic Disease - Tập 24 - Trang 707-714 - 2001
E. Pronicka, D. H. Piekutowska-Abramczuk, E. Popowska, M. Pronicki, E. Karczmarewicz, Y. Sykut-Cegielskâ, J. Taybert
Experimental data show that elevation of intracellular pH leads to severe lesions of brain cells. Acidification of intracellular fluid by accumulation of lactate may compensate the effect of respiratory alkalosis. Increased serum pH, and low PCO2, associated with hyperlactataemia (sometimes incorrectly called ‘acidosis’) have been reported in children with Leigh syndrome (LS). The aim of the study...... hiện toàn bộ
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
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblasts
Journal of Inherited Metabolic Disease - Tập 12 - Trang 47-57 - 1989
S. Packman, S. C. Whitney, M. Fitch, S. E. Fleming
Clinical and biochemical correlations in the biotin-responsive multiple carboxylase deficiencies have suggested that disordered lipogenesis plays a role in the pathogenesis of the disease. In particular, the activity of biotin-dependent acetyl CoA carboxylase and thede novo synthesis of fatty acids are reduced in mutant fibroblasts. In the present work, we examine the biochemical consequences of t...... hiện toàn bộ
Familial renal disease or familial juvenile hyperuricaemic nephropathy?
Journal of Inherited Metabolic Disease - Tập 20 - Trang 351-353 - 1997
M. B. McBride, H. A. Simmonds, F. Moro
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
Journal of Inherited Metabolic Disease - Tập 33 - Trang 253-256 - 2010
E. J. Footitt, J. Stafford, M. Dixon, M. Burch, C. Jakobs, G. S. Salomons, M. A. Cleary
Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. There is no consensus for dietary treatment in this condition. This case describes the effect of a long-chain triglyceride (LCT)-restricted/medium-chain triglyceride (MCT)-...... hiện toàn bộ
The use of amino acid supplements in inherited metabolic disease
Journal of Inherited Metabolic Disease - Tập 29 Số 2-3 - Trang 279-280 - 2006
John H. Walter, Anita MacDonald
SummaryAmino acid supplements are recognized to be essential for the management of a number of inherited metabolic disorders but their use in some other conditions is more controversial.
Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder
Journal of Inherited Metabolic Disease - Tập 28 Số 5 - Trang 707-714 - 2005
L. J. M. Spaapen, Jaap Bakker, Suzanne van Meer, H. J. Sijstermans, Richard Steet, Ron A. Wevers, J. Jaeken
SummaryCongenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in plasma were found, though total sialic acid in plasma was strongl...... hiện toàn bộ
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry
Journal of Inherited Metabolic Disease - Tập 39 - Trang 651-660 - 2016
Hubertus C. M. T. Prinsen, B. G. M. Schiebergen-Bronkhorst, M. W. Roeleveld, J. J. M. Jans, M. G. M. de Sain-van der Velden, G. Visser, P. M. van Hasselt, N. M. Verhoeven-Duif
Amino acidopathies are a class of inborn errors of metabolism (IEM) that can be diagnosed by analysis of amino acids (AA) in plasma. Current strategies for AA analysis include cation exchange HPLC with post-column ninhydrin derivatization, GC-MS, and LC-MS/MS-related methods. Major drawbacks of the current methods are time-consuming procedures, derivative problems, problems with retention, and MS-...... hiện toàn bộ
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