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From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12481, doi. 10.3390/ijms241512481
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- Article
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6213, doi. 10.3390/ijms21176213
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- Article
¿Sepsis neonatal con hiperamonemia? Diagnóstico clínico precoz de una acidemia isovalérica.
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- Revista Mexicana de Pediatria, 2019, v. 86, n. 5, p. 197, doi. 10.35366/sp195g
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- Article
Low-Scale expression and purification of an active putative iduronate 2-sulfate sulfatase- Like enzyme from Escherichia coli K12.
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- Journal of Microbiology, 2013, v. 51, n. 2, p. 213, doi. 10.1007/s12275-013-2416-2
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- Article
Implementación de un método para la cuantificación de cistina intraleucocitaria como apoyo diagnóstico para la cistinosis.
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- Nefrologia, 2020, v. 40, n. 1, p. 99, doi. 10.1016/j.nefro.2019.05.005
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- Article
1 H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies.
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- Metabolites (2218-1989), 2021, v. 11, n. 12, p. 891, doi. 10.3390/metabo11120891
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- Article
¿ Tiene el paciente una leucodistrofia? Importancia de la descripción clínica, la semiología y las neuroimágenes ante la sospecha diagnóstica de leucodistrofia de origen metabólico.
- Published in:
- Iatreia, 2017, v. 30, n. 2, p. 199, doi. 10.17533/udea.iatreia.v30n2a09
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- Article
Efectos de la pandemia del SARS-CoV-2 en pacientes con errores innatos del metabolismo. Revisión de la literatura.
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- Universitas Médica, 2022, v. 63, n. 2, p. 1, doi. 10.11144/Javeriana.umed63-2.inna
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- Article
Gangliosidosis G<sub>M1</sub>: a propósito de un caso clínico.
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- Universitas Médica, 2015, v. 56, n. 3, p. 366
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- Article