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Journal of Inherited Metabolic Disease|February 2, 2013
Diagnosing mucopolysaccharidosis IVATimothy C Wood, Katie Harvey, Michael Beck, et al.
Genetics and Molecular Biology|April 16, 2019
Population medical genetics: translating science to the communityRoberto Giugliani, Fernanda Bender, Rowena Couto, et al.
Parasite Epidemiology and Control|January 23, 2025
Application of molecular approach in combination with providing treatment and control measures for combating Babesia bovis and Babesia bigemina infections in small scale livestock farms in ThailandNutsuda Klinkaew, Pairpailin Jhaiaun, Giang Thi Nguyen, et al.
Clinical Genetics|August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VIA C M M Azevedo, I V Schwartz, L Kalakun, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriersI V D Schwartz, L L C Pinto, G Breda, et al.
JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2007
A clinical study of 77 patients with mucopolysaccharidosis type IIIda V D Schwartz, Márcia G Ribeiro, João G Mota, et al.
American Journal of Medical Genetics. Part A|November 22, 2021
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 7, 2021
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndromeJuliana Alves Josahkian, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, et al.
Orphanet Journal of Rare Diseases|November 9, 2022
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiencyFrancyne Kubaski, Alberto Burlina, Danilo Pereira, et al.
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