Molecular Genetics and Metabolism

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Crohn’s disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes
Molecular Genetics and Metabolism - Tập 86 - Trang 379-383 - 2005
Pegah Ghandil, Claude Chelala, Danièle Dubois-Laforgue, Valérie Senée, Sophie Caillat-Zucman, Ingrid Kockum, Holgar Luthman, Jorn Nerup, Flemming Pociot, José Timsit, Cécile Julier
Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
Molecular Genetics and Metabolism - Tập 98 - Trang 250-254 - 2009
J.E. Wraith, N. Guffon, M. Rohrbach, W.L. Hwu, G.C. Korenke, B. Bembi, C. Luzy, R. Giorgino, F. Sedel
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency
Molecular Genetics and Metabolism - Tập 79 - Trang 124-128 - 2003
Marcus Deschauer, Zofia M.A Chrzanowska-Lightowlers, Eckhard Biekmann, Morteza Pourfarzam, Robert W Taylor, Douglass M Turnbull, Stephan Zierz
Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene
Molecular Genetics and Metabolism - Tập 108 - Trang 102-105 - 2013
Tomas Honzik, Marketa Tesarova, Kamila Vinsova, Hana Hansikova, Martin Magner, Hana Kratochvilova, Josef Zamecnik, Jiri Zeman, Pavel Jesina
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
Molecular Genetics and Metabolism - Tập 105 - Trang 553-558 - 2012
Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yoichi Matsubara, Takeyori Saheki, Keiko Kobayashi, Toshihro Ohura, Shigeo Kure
N-acetylglutamate synthase: structure, function and defects
Molecular Genetics and Metabolism - Tập 100 - Trang S13-S19 - 2010
Ljubica Caldovic, Nicholas Ah Mew, Dashuang Shi, Hiroki Morizono, Marc Yudkoff, Mendel Tuchman
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Molecular Genetics and Metabolism - Tập 110 - Trang 111-115 - 2013
Sandra C. Van Calcar, Mei W. Baker, Phillip Williams, Susan A. Jones, Blia Xiong, Mai Choua Thao, Sheng Lee, Mai Khou Yang, Greg M. Rice, William Rhead, Jerry Vockley, Gary Hoffman, Maureen S. Durkin
Changes in the Carboxyl Terminus of the β Subunit of Human Propionyl-CoA Carboxylase Affect the Oligomer Assembly and Catalysis: Expression and Characterization of Seven Patient-Derived Mutant Forms of PCC in Escherichia coli
Molecular Genetics and Metabolism - Tập 71 - Trang 623-632 - 2000
Maja Chloupková, Kirstine Ravn, Marianne Schwartz, Jan P. Kraus
A straightforward, quantitative ultra-performance liquid chromatography‐tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses
Molecular Genetics and Metabolism - Tập 114 - Trang 123-128 - 2015
Haoyue Zhang, Tim Wood, Sarah P. Young, David S. Millington
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
Molecular Genetics and Metabolism - Tập 120 - Trang 378-383 - 2017
Melanie M. Bryan, Nathanial J. Tolman, Karen L. Simon, Marjan Huizing, Robert B. Hufnagel, Brian P. Brooks, Vladislav Speransky, James C. Mullikin, William A. Gahl, May Christine V. Malicdan, Bernadette R. Gochuico
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