Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel-Reference-Cited by-同舟云学术

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Published:2019-12 Issue:1 Volume:51 Page:53-61
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Muñoz Gloria¹,García‐Seisdedos David¹,Ciubotariu Crina¹,Piris‐Villaespesa Miguel²,Gandía Marta¹,Martín‐Moro Fernando²,Gutiérrez‐Solana Luis G.³⁴,Morado Marta⁵,López‐Jiménez Javier²,Sánchez‐Herranz Antonio¹,Villarrubia Jesús¹²,Castillo Francisco J.¹⁴⁶^ORCID

Affiliation:

1. UCA de Genómica Traslacional Hospital Universitario Ramón y Cajal, IRYCIS Madrid Spain

2. Servicio de Hematología Hospital Universitario Ramón y Cajal, IRYCIS Madrid Spain

3. Consulta de Neurodegenerativas, Servicio de Neurología Pediátrica Hospital Infantil Universitario Niño Jesús Madrid Spain

4. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain

5. Servicio de Hematología Hospital Universitario La Paz Madrid Spain

6. Servicio de Genética Hospital Universitario Ramón y Cajal, IRYCIS Madrid Spain

Funder

Instituto de Salud Carlos III

Sanofi Genzyme

European Regional Development Fund

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12078

Reference38 articles.

1. Lysosomal storage diseases

2. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention

3. Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?

4. Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

5. Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

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