Síndrome H: primer caso pediátrico reportado en América Latina-Reference-Cited by-同舟云学术

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Síndrome H: primer caso pediátrico reportado en América Latina

Published:2016-11 Issue:6 Volume:87 Page:494-499
ISSN:0370-4106
Container-title:Revista Chilena de Pediatría
language:es
Short-container-title:Revista Chilena de Pediatría

Author:

Abarca Barriga Hugo Hernán,Trubnykova Milana,Polar Córdoba Victoria,Ramos Diaz Katherine Joyce,Aviles Alfaro Nélida

Publisher

Sociedad Chilena de Pediatria

Subject

Pediatrics, Perinatology, and Child Health

Link

https://www.sciencedirect.com/science/article/pii/S0370410616300055/pdfft?isDTMRedir=true&download=true

Reference19 articles.

1. The H syndrome: A new genodermatosis characterized by indurated, hyperpigmented and hypertrichotic skin with systemic manifestations;Molho-Pessach;J Am Acad Dermatol,2008

2. The H syndrome is caused by mutations in the nucleoside transporter hENT3;Molho-Pessach;Am J Hum Genet,2008

3. H syndrome: The first 79 patients;Molho-Pessach;J Am Acad Dermatol,2014

4. Emperipolesis: An additional common histopathologic finding in H syndrome and Rosai-Dorfman disease;Colmenero;Am J Dermatopath,2012

5. Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome;Huber-Ruano;Biochem Biophys Res Commun,2012

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1. Effectiveness of rectal ozone therapy in patients with Sensorineural Hearing Loss;Interdisciplinary Rehabilitation / Rehabilitacion Interdisciplinaria;2022-11-05

2. Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia;Pediatric Rheumatology;2021-06-30

3. Facilitative lysosomal transport of bile acids alleviates ER stress in mouse hematopoietic precursors;Nature Communications;2021-02-23

4. H syndrome – the first report in Malaysia;International Journal of Dermatology;2019-06-13

5. Genetics and genomics in Peru: Clinical and research perspective;Molecular Genetics & Genomic Medicine;2018-11

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