Literature DB >> 24878502

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Tobias B Haack1, Dirk Klee2, Tim M Strom1, Ertan Mayatepek3, Thomas Meitinger1, Holger Prokisch4, Felix Distelmaier5.   

Abstract

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Year:  2014        PMID： 24878502     DOI： 10.1093/brain/awu128

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  13 in total

Review 1.  Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Authors:  Davide Tonduti; Luisa Chiapparini; Isabella Moroni; Anna Ardissone; Giovanna Zorzi; Federica Zibordi; Sergio Raspante; Celeste Panteghini; Barbara Garavaglia; Nardo Nardocci
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

2.  Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

Authors:  Hengameh Zahed; Teresa N Sparks; Ben Li; Adnan Alsadah; Joseph T C Shieh
Journal:  J Pediatr       Date:  2017-10       Impact factor: 4.406

Review 3.  Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.

Authors:  Ann E Frazier; David R Thorburn; Alison G Compton
Journal:  J Biol Chem       Date:  2017-12-12       Impact factor: 5.157

Review 4.  Emerging aspects of treatment in mitochondrial disorders.

Authors:  Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2015-05-12       Impact factor: 4.982

Review 5.  The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Authors:  Wolfgang Sperl; Leanne Fleuren; Peter Freisinger; Tobias B Haack; Antonia Ribes; René G Feichtinger; Richard J Rodenburg; Franz A Zimmermann; Johannes Koch; Isabel Rivera; Holger Prokisch; Jan A Smeitink; Johannes A Mayr
Journal:  J Inherit Metab Dis       Date:  2014-12-20       Impact factor: 4.982

6.  Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Authors:  Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia
Journal:  J Pediatr Genet       Date:  2018-12-18

7.  Current progress in the therapeutic options for mitochondrial disorders.

Authors:  E Koňaříková; A Marković; Z Korandová; J Houštěk; T Mráček
Journal:  Physiol Res       Date:  2020-11-02       Impact factor: 1.881

8.  Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Authors:  Whitney Whitford; Isobel Hawkins; Emma Glamuzina; Francessa Wilson; Andrew Marshall; Fern Ashton; Donald R Love; Juliet Taylor; Rosamund Hill; Klaus Lehnert; Russell G Snell; Jessie C Jacobsen
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-11-21

9.  A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Authors:  Zornitza Stark; Tiong Y Tan; Belinda Chong; Gemma R Brett; Patrick Yap; Maie Walsh; Alison Yeung; Heidi Peters; Dylan Mordaunt; Shannon Cowie; David J Amor; Ravi Savarirayan; George McGillivray; Lilian Downie; Paul G Ekert; Christiane Theda; Paul A James; Joy Yaplito-Lee; Monique M Ryan; Richard J Leventer; Emma Creed; Ivan Macciocca; Katrina M Bell; Alicia Oshlack; Simon Sadedin; Peter Georgeson; Charlotte Anderson; Natalie Thorne; Clara Gaff; Susan M White
Journal:  Genet Med       Date:  2016-03-03       Impact factor: 8.822

Review 10.  Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Authors:  Jiaping Wang; Junling Wang; Xiaodi Han; Zhimei Liu; Yanli Ma; Guohong Chen; Haoya Zhang; Dan Sun; Ruifeng Xu; Yi Liu; Yuqin Zhang; Yongxin Wen; Xinhua Bao; Qian Chen; Fang Fang
Journal:  Front Genet       Date:  2021-07-01       Impact factor: 4.599
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