ethylmalonic aciduria
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scholarly journals Variants in the Ethylmalonyl‐CoA Decarboxylase ( ECHDC1 ) Gene; a Novel Player in Ethylmalonic Aciduria?

2021 ◽  
Author(s):  
Sarah Fogh ◽  
Graziana Dipace ◽  
Anne Bie ◽  
Maria Veiga‐da‐Cunha ◽  
Jakob Hansen ◽  
...  
Keyword(s):  
Ethylmalonic Aciduria

scholarly journals Ethylmalonic Aciduria: Report of a new Case

2020 ◽  
Vol 08 (02) ◽  
pp. 541-544
Author(s):  
Chaimae Khairoun ◽  
Mouna Sabib ◽  
Toufik Meskini ◽  
Naima Erreimi ◽  
Nezha Mouane
Keyword(s):  
Ethylmalonic Aciduria

scholarly journals Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation

2017 ◽  
Vol 63 (11) ◽  
pp. 1771-1773 ◽  
Author(s):  
Roy W A Peake ◽  
Lance H Rodan
Keyword(s):  
Ethylmalonic Aciduria

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

2010 ◽  
Vol 33 (3) ◽  
pp. 211-222 ◽  
Author(s):  
Christina B. Pedersen ◽  
Zarazuela Zolkipli ◽  
Søren Vang ◽  
Johan Palmfeldt ◽  
Margrethe Kjeldsen ◽  
...  
Keyword(s):  
Potential Risk ◽  
Ethylmalonic Aciduria

A severe case of encephalopathy with ethylmalonic aciduria and generalized vasculopathy

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
A Hack ◽  
K Klein ◽  
R Wößner ◽  
W Kress ◽  
HM Straßburg
Keyword(s):  
Severe Case ◽  
Ethylmalonic Aciduria

Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report

2007 ◽  
Vol 23 (6) ◽  
pp. 703-705 ◽  
Author(s):  
Çetin Okuyaz ◽  
Fatih Süheyl Ezgü ◽  
Gürsel Biberoğlu ◽  
Massimo Zeviani ◽  
Valeria Tiranti ◽  
...  
Keyword(s):  
Case Report ◽  
Ethylmalonic Aciduria

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

2003 ◽  
Vol 26 (1) ◽  
pp. 37-42 ◽  
Author(s):  
J. Seidel ◽  
S. Streck ◽  
K. Bellstedt ◽  
C. Vianey-Saban ◽  
C. B. Pedersen ◽  
...  
Keyword(s):  
Short Chain ◽  
Rare Mutations ◽  
Dehydrogenase Gene ◽  
Chain Acyl ◽  
Recurrent Vomiting ◽  
Ethylmalonic Aciduria
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