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CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia

• Authors : Daniel Eduardo Manrique Hernandez; Diana Sanchez-Peñarete; Sandra Milena Castellar-Leones

Subjects: CLN6; Neuronal ceroid lipofuscinoses; Lysosomal storage diseases

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2023)

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Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia

• Authors : Lina Johanna Moreno Giraldo; José María Satizabal; Adalberto Sánchez Gómez

Subjects: Computational Biology; Exome sequencing; Mucopolysaccharidosis Complex

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

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Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry

• Authors : Antonio Bermúdez; Dora Robayo; Gloria Porras

Subjects: Neonatal Screening; Inborn error of metabolism; tandem mass spectrometry

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

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Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

• Authors : Daniela Arturo Terranova; Lina Johanna Moreno Giraldo; Henry Idrobo

Subjects: Computational Biology; Gaucher Disease; GBA gene

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

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Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

• Authors : Johana Ramírez Borda; Alfredo Uribe-Ardila

Subjects: mucopolysaccharidosis III; heparan sulfate; Sanfilippo syndrome B

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

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Otorhinolaryngological Findings in Patients from Southwestern Colombia with Clinical, Enzymatic and Molecular Diagnosis of Mucopolysaccharidosis II, IV-A and VI

• Authors : Lina Johanna Moreno Giraldo; Daniela Arturo-Terranova; José María Satizábal Soto

Subjects: hearing loss; mucopolysaccharidosis; otitis media

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

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Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

• Authors : Gustavo Adolfo Giraldo; F. Suárez-Obando; L. Mora

Subjects: Medicine (General); R5-920

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)

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β-Galactosidase Deficiency in Colombia

• Authors : Alfredo Uribe PhD; Adis Ayala MSc; Monica España MSc

Subjects: Medicine (General); R5-920

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)

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Abstracts of Free Communications Accepted for Presentation at the IX Latin American Congress of Inborn Errors of Metabolism and Newborn Screening, Medellin, Colombia, December 1 to 4, 2013

Subjects: Medicine (General); R5-920

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 1 (2013)

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Abstracts of Free Communications Accepted for Presentation at the IX Latin American Congress of Inborn Errors of Metabolism and Newborn Screening, Medellin, Colombia, December 1 to 4, 2013

Subjects: Medicine (General); R5-920

• Source: Journal of Inborn Errors of Metabolism and Screening, Vol 1 (2013)

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