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. Homozygous mutations were found in all fou... hiện toàn bộ
Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib
Journal of Inherited Metabolic Disease - - 2001
A. Boneh, A. W. Auldist, D. E. M. Francis, S. Casanelia, L. Warwick, K. Tiedemann
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
View from inside
Journal of Inherited Metabolic Disease - Tập 41 - Trang 905-907 - 2018
Faye Wylie
Author Index
Journal of Inherited Metabolic Disease - Tập 36 - Trang 343-360 - 2013
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism
Journal of Inherited Metabolic Disease - Tập 38 - Trang 375-376 - 2014
L. H. P. Vroegindeweij, A. J. W. Boon, J. H. P. Wilson, J. G. Langendonk
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
Adenylosuccinase deficiency: A newly recognized variant
Journal of Inherited Metabolic Disease - Tập 15 - Trang 416-418 - 1992
J. Jaeken, F. Van Den Bergh, M. F. Vincent, P. Casaer, G. Van den Berghe
A novel mitochondrial transfer RNA proline mutation
Journal of Inherited Metabolic Disease - Tập 23 Số 8 - Trang 853-854 - 2000
Sara Seneca, Willy Lissens, Chantal Ceuterick‐de Groote, Rudy Van Coster, Linda De Meırleır
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
Journal of Inherited Metabolic Disease - Tập 35 - Trang 505-511 - 2011
C. M. van Gelder, C. I. van Capelle, B. J. Ebbink, I. Moor-van Nugteren, J. M. P. van den Hout, M. M. Hakkesteegt, P. A. van Doorn, I. F. M. de Coo, A. J. J. Reuser, H. H. W. de Gier, A. T. van der Ploeg
Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facia... hiện toàn bộ
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