Esperanza Font–Montgomery

Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension

Uma Ramaswami, Esperanza Font–Montgomery, Özlem Göker-Alpan, Damara Ortiz et autres

gb, us (code pays fourni par la source)

DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen et autres

nl, lv, gb, us, fr, au, be (code pays fourni par la source)

Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension

Uma Ramaswami, Esperanza Font–Montgomery, Özlem Göker-Alpan, Damara Ortiz et autres

Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension

Robert J. Hopkin, Amarilis Sanchez‐Valle, Esperanza Font–Montgomery, Özlem Göker-Alpan et autres

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Shino Shimada, Bobby G. Ng, Amy White, Kim K. Nickander et autres

us, br, de, ru, au (code pays fourni par la source)

Delineating the genotypic and phenotypic spectrum of HECW2 -related neurodevelopmental disorders

Anushree Acharya, Haluk Kavuş, Patrick M. Dunn, Abdul Nasır et autres

us, kr, fr, qa, fi (code pays fourni par la source)

Improving the performance of newborn screening for mucopolysaccharidosis type II with second tier biomarker testing

Dawn Peck, Amy White, Gisele Pino, April Studinski et autres

The role of biomarkers for the follow up of infants with positive newborn screening results for Fabry disease

Gisele Pino, April Studinski, Amy White, Dawn Peck et autres

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Nehna Abdul Majeed, Esperanza Font–Montgomery, Linda Lukose, Joy Bryant et autres

us (code pays fourni par la source)

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura Adang, Lars Schlotawa, Samuel Groeschel, Christiane Kehrer et autres

us, de, il, br (code pays fourni par la source)

Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?

Miguel Chuquilin, Raghav Govindarajan, Dawn Peck, Esperanza Font–Montgomery

us (code pays fourni par la source)

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold et autres

us (code pays fourni par la source)