Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed

2019 ◽  
Vol 66 (11) ◽  
Author(s):  
Josef Finsterer
Keyword(s):  
Mitochondrial Disorders ◽  
Sideroblastic Anemia ◽  
Phenotypic Spectrum ◽  
Mtdna Deletions

scholarly journals The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Haematologica ◽  
2018 ◽  
Vol 103 (12) ◽  
pp. 2008-2015 ◽  
Author(s):  
Lisa G. Riley ◽  
Matthew M. Heeney ◽  
Joëlle Rudinger-Thirion ◽  
Magali Frugier ◽  
Dean R. Campagna ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Mitochondrial Myopathy ◽  
Sideroblastic Anemia ◽  
Phenotypic Spectrum

Sideroblastic anemia associated with multisystem mitochondrial disorders

2018 ◽  
Vol 66 (4) ◽  
pp. e27591 ◽  
Author(s):  
Marketa Tesarova ◽  
Alzbeta Vondrackova ◽  
Hana Stufkova ◽  
Lenka Veprekova ◽  
Viktor Stranecky ◽  
...  
Keyword(s):  
Mitochondrial Disorders ◽  
Sideroblastic Anemia

scholarly journals POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

2003 ◽  
Vol 22 (6) ◽  
pp. 498-499 ◽  
Author(s):  
Alessio Di Fonzo ◽  
Andreina Bordoni ◽  
Marco Crimi ◽  
Galbiati Sara ◽  
Roberto Del Bo ◽  
...  
Keyword(s):  
Mitochondrial Disorders ◽  
Mtdna Deletions

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum

Primary mitochondrial disorders and diabetes mellitus - two case reports

2018 ◽  
Author(s):  
Lucia Fadiga ◽  
Joana Saraiva ◽  
Diana Oliveira ◽  
Adriana Lages ◽  
Mara Ventura ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Reports ◽  
Mitochondrial Disorders
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