The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings-Reference-Cited by-同舟云学术

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The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

Published:2014-09 Issue:9 Volume:57 Page:527-531
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Couce María L.,Macías-Vidal Judit,Castiñeiras Daisy E.,Bóveda María D.,Fraga José M.,Fernández-Marmiesse Ana,Coll María J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference22 articles.

1. Neurocognitive profiles in Salla disease;Alajoki;Dev Med Child Neurol,2004

2. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation;Aula;Am J Hum Genet,2000

3. Disorders of free sialic acid storage;Aula,2001

4. Homozygosity for the p.K136E mutation in the SLC15A5 gene as cause of an Italian severe Salla disease;Biancheri;Neurogenetics,2005

5. Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes;Courville;J Biol Chem,2010

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1. Free sialic acid storage disorder: Progress and promise;Neuroscience Letters;2021-06

2. Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel;JIMD Reports;2019-12

3. New Advanced Strategies for the Treatment of Lysosomal Diseases Affecting the Central Nervous System;Current Pharmaceutical Design;2019-09-04

4. Fostering caring relationships: Suggestions to rethink liberal perspectives on the ethics of newborn screening;Bioethics;2018-02-14

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