Výsledky vyhledávání - "R. C. A. SENGERS"

Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain

Autor: Wim Ruitenbeek, Udo Wendel, J. M. F. Trijbels, H.A.C.M. Bentlage, R. C. A. Sengers

Publikováno v: European Journal of Pediatrics, 154, 11, pp. 915-918
European Journal of Pediatrics, 154, 915-918
European Journal of Pediatrics, 154, pp. 915-918

A patient with neonatal expression of severe De Toni-Debré-Fanconi syndrome is presented. Because of early signs of renal tubulopathy together with a large urinary excretion of lactate, 3-hydroxybutyrate and citric acid cycle intermediates, a mitoch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f48ae709d250ee5ec54ea13bec27d06
https://doi.org/10.1007/bf01957505

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Congenital muscular dystrophy

Autor: Fons J. M. Gabreëls, H.J. ter Laak, W. O. Renier, R. C. A. Sengers, K. Renkawek, Q.H. Leyten

Publikováno v: Acta Neuropathologica. 86:386-392

Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the bra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97aeeaeabad811744655646ddc37cf9f
https://doi.org/10.1007/bf00369452

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Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies

Autor: Antoon J.M. Janssen, R. C. A. Sengers, H. F. M. Busch, J. M. F. Trijbels, Wim Ruitenbeek, Hans R. Scholte

Publikováno v: European Journal of Pediatrics. 152:178-184

Patients suffering from a mitochondrial (encephalo-)myopathy have a remarkable clinical heterogeneity. A reliable and extensive investigation must be performed in order to obtain a correct diagnosis, but many factors may influence the ultimate result

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfbe94afb162b6e9d5be47a7efd4ce4a
https://doi.org/10.1007/bf01956139

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A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

Autor: Ad M. Stadhouders, Jan A.M. Smeitink, R. C. A. Sengers, G. J. van Ekeren

Publikováno v: European Journal of Pediatrics. 152:255-259

The objectives of this study were to describe the course of two forms of an hereditary syndrome characterised by congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. We also sought to determine clinical, physi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fd5704e8cd5fe57b6b934ee815fcc3
https://doi.org/10.1007/bf01956157

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Maturation of Mitochondrial and other Isoenzymes of Creatine Kinase in Skeletal Muscle of Preterm Born Infants

Autor: T v Lith, Ron A. Wevers, Frans J.M. Trijbels, R. C. A. Sengers, Wolfgang Sperl, R.M. de Graaf, J. A. M. Smeitink, Wim Ruitenbeek

Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 29:302-306

We studied pre- and postnatal changes in total creatine kinase (CK) activity, mitochondrial creatine kinase (Mi-CK) activity and immunochemical reactivity with anti-Mi-CK antibodies in skeletal muscle specimens from 12 infants, 10 of them preterm bor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ebbdc16201cabf558d5ebf5ff8febb
https://doi.org/10.1177/000456329202900309

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Myopathology and a mitochondrial DNA deletion in the pearson marrow and pancreas syndrome

Autor: D. D. De Vries, B.A. van Oost, W. Sperl, M.P.M.E. van der Wouw, R. C. A. Sengers, Wim Ruitenbeek, C.J.M. Buzing, J. M. F. Trijbels

Publikováno v: Neuromuscular Disorders. 2:185-195

A patient with the Pearson marrow and pancreas syndrome is presented. She showed an anaemia with neutropenia and thrombopenia, failure to thrive, diarrhoea, disturbed glucose homeostasis and lactic acidosis. An exocrine pancreatic insufficiency was l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df0dabfdecf91d447b453b792b89eda
https://doi.org/10.1016/0960-8966(92)90005-q

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Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

Autor: Frits A. Wijburg, Jan A.J.M. Bakkeren, R. J. A. Wanders, Wim Ruitenbeek, Jos P.N. Ruiter, J. M. F. Trijbels, N. Feller, R. C. A. Sengers

Publikováno v: Journal of inherited metabolic disease, 15(1), 84-91. Springer Netherlands

Formation of lactate and pyruvate from glucose was studied in cultured amniocytes and chorionic villus fibroblasts from controls, either untreated or treated with azide, an inhibitor of cytochrome c oxidase, or other inhibitors of the mitochondrial r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40314a1c3e61343589bcb6c3155cfccb
https://doi.org/10.1007/bf01800349

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MELAS Syndrome - Report of Two Patients, and Comparison with Data of 24 Patients Derived from the Literature*

Autor: J. L. M. Van Hellenberg Hubar, Fons J. M. Gabreëls, R. C. A. Sengers, H.O.M. Thijssen, Wim Ruitenbeek, W. O. Renier, H.J. ter Laak

Publikováno v: Neuropediatrics. 22:10-14

We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS syndrome occur late in the course of the disease. The diagnosis is based on characteristic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795aaeedb15a63fc95bdd5737c9a2b61
https://doi.org/10.1055/s-2008-1071408

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