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Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

• Authors : Olga Y. Echeverri; Johana M. Guevara; Ángela J. Espejo-Mojica

Subjects: Inborn errors of metabolism; Colombia; Latin America

• Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)

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A civil society view of rare disease public policy in six Latin American countries.

• Authors : Mayrides M; Emoluva Partners, LLC, 10142 SW 79th Avenue, Miami, FL, 33156, USA. .; Ruiz de Castilla EM

Subjects: Public Policy* ; Rare Diseases*; Argentina

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 27; Vol. 15 (1), pp. 60. Date of Electronic Publication: 2020 Feb 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.

• Authors : Echeverri, Olga Y¹ (AUTHOR); Guevara, Johana M¹ (AUTHOR); Espejo-Mojica, Ángela J¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/16/2018, Vol. 13 Issue 1, p141-141. 1p.

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A civil society view of rare disease public policy in six Latin American countries

• Authors : Mo Mayrides; Eva Maria Ruiz de Castilla; Silvina Szelepski

Subjects: Rare diseases; Orphan drugs; National laws

• Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

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∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

• Authors : Gardin, Antoine¹ (AUTHOR); Ruiz, Mathias² (AUTHOR); Beime, Jan³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/7/2023, Vol. 18 Issue 1, p1-9. 9p.

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Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

• Authors : Liy-Wong, Carmen¹ (AUTHOR) ; Tarango, Cristina² (AUTHOR); Pope, Elena³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/23/2023, Vol. 18 Issue 1, p1-16. 16p.

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Beyond the clinical context: the process of losing oneself living with Huntington's disease.

• Authors : Varela, Luz-Estella¹ (AUTHOR) ; Arias, María-Mercedes¹ (AUTHOR); Martorell-Poveda, María-Antonia² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/7/2022, Vol. 17 Issue 1, p1-13. 13p.

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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.

• Authors : Fano, Virginia¹ (AUTHOR); Kim, Chong A.² (AUTHOR); Rosselli, Pablo³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/4/2022, Vol. 17 Issue 1, p1-28. 28p.

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∆ 4 -3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

• Authors : Gardin A; Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FSMR Filfoie, ERN RARE LIVER, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Faculty of Medicine Paris-Saclay, Le Kremlin-Bicêtre; INSERM UMR-S1193, Hepatinov, University Paris-Saclay, Orsay, France.

Subjects: Bile Acids and Salts* ; Metabolic Diseases*/Metabolic Diseases*/Metabolic Diseases*/drug therapy; Child

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Dec 07; Vol. 18 (1), pp. 383. Date of Electronic Publication: 2023 Dec 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

• Authors : Mejia-Gaviria, Natalia¹; Gil-Peña, Helena²; Coto, Eliecer²

• Source: Orphanet Journal of Rare Diseases. 2010, Vol. 5, p1-4. 4p. 1 Diagram, 1 Chart.

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