Danh mục bài báo

Molecular Genetics and Metabolism

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

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders
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Molecular Genetics and Metabolism· Tập 130 ·Trang 110-117·2020
Clément Pontoizeau, Célina Roda, Jean-Baptiste Arnoux, Patricia Vignolo-Diard, Anais Brassier, Florence Habarou, Valérie Barbier, Coraline Grisel, Marie-Thérèse Abi-Warde, Nathalie Boddaert, Alice Kuster, Aude Servais, Anna Kaminska, Carole Hennequin, Laurent Dupic, Fabrice Lesage, Guy Touati, Vassili Valayannopoulos, Bernadette Chadefaux-Vekemans, Mehdi Oualha
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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
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Molecular Genetics and Metabolism· Tập 121 ·Trang 206-215·2017
Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune
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Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
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Molecular Genetics and Metabolism· Tập 93 ·Trang 112-128·2008
William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin, Alberto Ortiz, Maryam Banikazemi, Ulla Feldt-Rasmussen, Katherine Sims, Stephen Waldek, Gregory M. Pastores, Philip Lee, Christine M. Eng, Laszlo Marodi, Kevin E. Stanford, Frank Breunig, Christoph Wanner, David G. Warnock, Roberta M. Lemay, Dominique P. Germain
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Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics
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Molecular Genetics and Metabolism· Tập 114 ·Trang 217-225·2015
James M. Murray, Anne Marie Thompson, Allison Vitsky, Michael Hawes, Wei-Lien Chuang, Joshua Pacheco, Stephen Wilson, John M. McPherson, Beth L. Thurberg, Kenneth P. Karey, Laura Andrews
Tổng số: 2,068
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