Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in the ALDH7A1 gene

By Jagadeesh Sujatha  

Paediatrics and International Child Health, Vol. 33, Iss. 2, 2013-05 ,pp. : 113-115

Maney Publishing

Access to resources Recommend Favorite

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 ^−/− mice and characterization of γ-hydroxybutyric acid pharmacology

By Knerr I.   Pearl P.   Bottiglieri T.   Carter Snead O.   Jakobs C.   Gibson K.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 279-294

Springer Publishing Company

Access to resources Recommend Favorite

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

By Vries Maaike   Rodenburg Richard   Morava Eva   Kaauwen Edwin   Laak Henk   Mullaart Reinier   Snoeck Irina   Hasselt Peter   Harding Peter   Heuvel Lambert   Smeitink Jan  

European Journal of Pediatrics, Vol. 166, Iss. 3, 2007-03 ,pp. : 229-234

Springer Publishing Company

Access to resources Recommend Favorite

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

By Ostergaard E.   Moller L.   Kalkanoglu-Sivri H.   Dursun A.   Kibaek M.   Thelle T.   Christensen E.   Duno M.   Wibrand F.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 235-239

Springer Publishing Company

Access to resources Recommend Favorite

Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene

By Moul Adrienne   Alladin Amanda   Navarrete Cristina   Abdenour George   Rodriguez Maria M.  

Fetal and Pediatric Pathology, Vol. 32, Iss. 5, 2013-10 ,pp. : 319-325

Informa Healthcare

Access to resources Recommend Favorite