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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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

Authors : Dora Beatriz Robayo; Antonio Bermúdez; Gloria Porras

Subjects: chemistry.chemical_classification; Analyte; amino acids

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210012, Published: 11 JUN 2021Journal

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

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

Subjects: Genetics; education.field_of_study; Medicine (General)

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200018, Published: 14 JUN 2021Journal

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Academic Journal

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

Authors : Alfredo Uribe-Ardila; Johana Ramírez Borda

Subjects: medicine.medical_specialty; Medicine (General); fluorometric endpoint assay

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200023, Published: 12 APR 2021Journal

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