Zobrazeno 1 - 10
of 43
pro vyhledávání: '"MTP deficiency"'
Autor:
Ruoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, Shiro Aoki, Yu Yamazaki, Akihiro Hashiguchi, Hiroshi Takashima, Hirofumi Maruyama
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and periphera
Externí odkaz:
https://doaj.org/article/4d4677a925ca4143a5a13d95158b9db9
Autor:
Chris Stinton, Hannah Fraser, Julia Geppert, Rebecca Johnson, Martin Connock, Samantha Johnson, Aileen Clarke, Sian Taylor-Phillips
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death i
Externí odkaz:
https://doaj.org/article/68a3c0bb5a984f8fa1824cb276ab03f0
Akademický článek
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Autor:
Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser
Publikováno v:
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Contains fulltext : 283151.pdf (Publisher’s version ) (Open Access) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is included in many newborn screening (NBS) programs. Acylcarnitine-based NBS for LCHADD not only identifies LCHADD,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac31efe736b5ab73a20fdbf76edccd1
https://doi.org/10.1002/jimd.12502
https://doi.org/10.1002/jimd.12502
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 80-84 (2015)
We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP) deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnos
Externí odkaz:
https://doaj.org/article/676dd7fffb7b428d9276650769d0c387
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Hannah Fraser, Aileen Clarke, Julia Geppert, Rebecca E. Johnson, Samantha Johnson, Martin Connock, Chris Stinton, Sian Taylor-Phillips
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics, Vol 9 (2021)
Background: Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare autosomal recessive fatty acid β-oxidation disorders. Their clinical presentations are variable, and premature death i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fca96154f847ad11878ca2b91e4de33
https://doi.org/10.3389/fped.2021.606194
https://doi.org/10.3389/fped.2021.606194
Autor:
Ondrová, Ellen
The bachelor thesis deals with rare hereditary metabolic disorders, LCHAD (long chain 3- hydroxyacyl-coenzyme A dehydrogenase) deficiency and MTP (mitochondrial trifunctional protein) or TFP (trifunctional protein) deficiency. Deficiencies of these e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2186::2f35ae4039df89f6a9d4a70061bcd5c4
http://www.nusl.cz/ntk/nusl-452328
http://www.nusl.cz/ntk/nusl-452328
Autor:
M. Brisset, A. Boutron, G. Nicolas, T. Maisonobe, Manuel Schiff, S. Souvannanorath, Yann Nadjar, Karine Viala, Pascal Laforêt, P. de Lonlay
Publikováno v:
Revue Neurologique
Revue Neurologique, Elsevier Masson, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
Revue Neurologique, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
Revue Neurologique, Elsevier Masson, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
Revue Neurologique, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
Introduction Mitochondrial trifunctional protein deficiency (MTPD) is a long-chain fatty acid oxidation disorder characterized by co-existence of rhabdomyolysis episodes and peripheral neuropathy. Two phenotypes are described: generalized mitochondri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2207f1e15889a7ada69c76c1d97436e
https://pubmed.ncbi.nlm.nih.gov/32253025
https://pubmed.ncbi.nlm.nih.gov/32253025