Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

By Schielen Peter C. J. I.   Kemper Evelien A.   Gelb Michael H.  

International Journal of Neonatal Screening, Vol. 3, Iss. 2, 2017-03 ,pp. : 6-6

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Mitochondrial Dysfunction in Lysosomal Storage Disorders

By de la Mata Mario   Cotán David   Villanueva-Paz Marina   de Lavera Isabel   Álvarez-Córdoba Mónica   Luzón-Hidalgo Raquel   Suárez-Rivero Juan M.   Tiscornia Gustavo   Oropesa-Ávila Manuel  

Diseases, Vol. 4, Iss. 4, 2016-10 ,pp. : 31-31

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Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders

By Moskot Marta   Bocheńska Katarzyna   Jakóbkiewicz-Banecka Joanna   Banecki Bogdan   Gabig-Cimińska Magdalena  

International Journal of Molecular Sciences, Vol. 19, Iss. 1, 2018-01 ,pp. : 247-247

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Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders

By Coutinho Maria Francisca   Santos Juliana Inês   Matos Liliana   Alves Sandra  

Diseases, Vol. 4, Iss. 4, 2016-11 ,pp. : 33-33

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Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

By Steuerwald Ulrike   Lund Allan M.   Rasmussen Jan   Janzen Nils   Hougaard David M.   Longo Nicola  

International Journal of Neonatal Screening, Vol. 3, Iss. 1, 2017-02 ,pp. : 1-1

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