Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria-Reference-Cited by-同舟云学术

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

Published:2020-02 Issue:2 Volume:129 Page:106-110
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Pino Gisele,Conboy Erin,Tortorelli Silvia,Minnich Sara,Nickander Kim,Lacey Jean,Peck Dawn,Studinski April,White Amy,Gavrilov Dimitar,Rinaldo Piero,Matern Dietrich,Oglesbee Devin,Giugliani Roberto,Burin Maira,Raymond Kimiyo

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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4. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency;Sabourdy;Orphanet J Rare Dis.,2015

5. Expanding the genetic cause of multiple sulfatase deficiency: a novel SUMF1 variant in a patient displaying a severe late infantile form of the disease;Jaszczuk;Mol. Genet. Metab.,2017

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2. Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots;JIMD Reports;2024-02-19

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5. Lysosomal storage disorders: from biology to the clinic with reference to India;The Lancet Regional Health - Southeast Asia;2023-02