Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Author： Hong Y. S.   Korman S. H.   Lee J.   Ghoshal P.   Wu Q.   Barash V.   Kang S.   Oh S.   Kwon M.   Gutman A.   Rachmel A.   Patel M. S.  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.26, Iss.8, 2003-01, pp. : 816-818

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency

By Haviv Ruby   Zeharia Avraham   Belaiche Corinne   Haimi Cohen Yishai   Saada Ann  

European Journal of Pediatrics, Vol. 173, Iss. 2, 2014-02 ,pp. : 243-245

Springer Publishing Company

Access to resources Recommend Favorite

The Effect of Vitamin D Therapy on Hematological Indices in Children with Vitamin D Deficiency

By Soliman Ashraf T.   Eldabbagh Muhamed   Elawwa Ahmed   Ashour Rasha   Saleem Wael  

Journal of Tropical Pediatrics, Vol. 58, Iss. 6, 2012-12 ,pp. : 523-524

Oxford University Press

Access to resources Recommend Favorite

PATHOLOGY OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY CAUSED BY THE G1528C MUTATION

By Tyni Tiina   Rapola Juhani   Paetau Anders   Palotie Aarno   Pihko Helena  

Pediatric Pathology & Laboratory Medicine, Vol. 17, Iss. 3, 1997-06 ,pp. : 427-447

Informa Healthcare

Access to resources Recommend Favorite

Vitamin D deficiency and rickets: possible role of maternal vitamin D deficiency

By Dawodu Adekunle   Tsang Reginald  

Annals of Tropical Paediatrics, Vol. 27, Iss. 4, 2007-12 ,pp. : 319-319

Maney Publishing

Access to resources Recommend Favorite

Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia

By Hargreaves I.   Heales S.   Briddon A.   Lee P.   Hanna M.   Land J.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 505-506

Springer Publishing Company

Access to resources Recommend Favorite