Molecular Genetics and Metabolism Reports

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Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree
Molecular Genetics and Metabolism Reports - Tập 12 - Trang 76-79 - 2017
Belal Azab, Zain Dardas, Mohannad Hamarsheh, Mohammad Alsalem, Zaid Kilani, Farah Kilani, Abdalla Awidi, Hanan Jafar, Sami Amr
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
Molecular Genetics and Metabolism Reports - Tập 17 - Trang 19-21 - 2018
Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
Molecular Genetics and Metabolism Reports - Tập 32 - Trang 100887 - 2022
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses
Molecular Genetics and Metabolism Reports - Tập 29 - Trang 100797 - 2021
Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease
Molecular Genetics and Metabolism Reports - Tập 14 - Trang 68-72 - 2018
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy
Molecular Genetics and Metabolism Reports - Tập 1 - Trang 249-253 - 2014
Akira Suzuki, Hironori Nagasaka, Yasuhiro Ochi, Kazuhiro Kobayashi, Hiroshi Nakamura, Daisaku Nakatani, Satoshi Yamaguchi, Shinobu Yamaki, Atsushi Wada, Yoshihisa Shirata, Shu-Ping Hui, Tatsushi Toda, Hiroshi Kuroda, Hitoshi Chiba, Ken-ichi Hirano
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
Molecular Genetics and Metabolism Reports - Tập 12 - Trang 115-118 - 2017
Chen Wu, Takeo Iwamoto, Junko Igarashi, Takashi Miyajima, Mohammad Arif Hossain, Hiroko Yanagisawa, Keiko Akiyama, Haruo Shintaku, Yoshikatsu Eto
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia
Molecular Genetics and Metabolism Reports - Tập 10 - Trang 28-30 - 2017
S. Santra, A. Macdonald, M.A. Preece, R.K. Olsen, B.S. Andresen
The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene
Molecular Genetics and Metabolism Reports - Tập 6 - Trang 64-69 - 2016
E. Kelland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency
Molecular Genetics and Metabolism Reports - Tập 31 - Trang 100860 - 2022
Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens
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