Publications by authors named "Alex Broomfield"

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Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Uma Ramaswami, Eugen Mengel, Abdelkrim Berrah, Moeenaldeen AlSayed, Alex Broomfield

Mol Genet Metab· August 2021

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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Arunabha Ghosh, Jean Mercer, Sabrina Mackinnon, Wyatt W Yue, Heather Church, Alex Broomfield

Hum Mutat· November 2017

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue, Alex Broomfield

Brain· November 2016

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Monika Oláhová, Steven A Hardy, Julie Hall, John W Yarham, Tobias B Haack, Alex Broomfield

Brain· December 2015

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