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Molecular Genetics and Metabolism Reports

Công bố khoa học tiêu biểu của tạp chí. * Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp

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

Tổng số: 434