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

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

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

1994 ◽  
Vol 16 ◽  
pp. 12-22 ◽  
Author(s):  
P.T. Ozand ◽  
M. Rashed ◽  
D.S. Millington ◽  
N. Sakati ◽  
S. Hazzaa ◽  
...  
Keyword(s):  
Organic Acidemia ◽  
Cns Involvement ◽  
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

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

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

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

1993 ◽  
Vol 152 (11) ◽  
pp. 922-924 ◽  
Author(s):  
A. C. Sewell ◽  
J. Herwig ◽  
H. Böhles ◽  
P. Rinaldo ◽  
A. Bhala ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Chain Acyl ◽  
Ethylmalonic Aciduria
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