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Article

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2017

Tebani Abdellah, Schmitz-Afonso Isabelle, Abily-Donval Lenaig, Héron Bénédicte, Piraud Monique, Ausseil Jérôme, Brassier Anais, De Lonlay Pascale, Zerimech Farid, Vaz Frédéric M, Gonzalez Bruno J, Marret Stephane, Afonso Carlos, Bekri Soumeya

Abstract excerpt

BACKGROUND: Application of metabolic phenotyping could expand the pathophysiological knowledge of mucopolysaccharidoses (MPS) and may reveal the comprehensive metabolic impairments in MPS. However, few studies applied this approach to MPS. METHODS: We applied targeted and untargeted metabolic profiling in urine samples obtained from a French cohort comprising 19 MPS I and 15 MPS I treated patients along with 66...

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PMID: 28982054
DOI: 10.1016/j.cca.2017.09.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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