Literature DB >> 16601893

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

C Sansaricq1, S Pardo, M Balwani, M Grace, K Raymond.   

Abstract

A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

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Year:  2006        PMID： 16601893     DOI： 10.1007/s10545-006-0175-5

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  2 in total

1.  Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

Authors:  A Shaag; A Saada; I Berger; H Mandel; A Joseph; A Feigenbaum; O N Elpeleg
Journal:  Am J Med Genet       Date:  1999-01-15

2.  Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.

Authors:  O N Elpeleg; W Ruitenbeek; C Jakobs; V Barash; D C De Vivo; N Amir
Journal:  J Pediatr       Date:  1995-01       Impact factor: 4.406
  2 in total
  7 in total

1.  Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Authors:  Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

2.  Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Authors:  Shane C Quinonez; Steven M Leber; Donna M Martin; Jess G Thoene; Jirair K Bedoyan
Journal:  Pediatr Neurol       Date:  2013-01       Impact factor: 3.372

3.  Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.

Authors:  Eszter Szabo; Piotr Wilk; Balint Nagy; Zsofia Zambo; David Bui; Andrzej Weichsel; Palaniappa Arjunan; Beata Torocsik; Agnes Hubert; William Furey; William R Montfort; Frank Jordan; Manfred S Weiss; Vera Adam-Vizi; Attila Ambrus
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

4.  Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.

Authors:  Attila Ambrus; Junjie Wang; Reka Mizsei; Zsofia Zambo; Beata Torocsik; Frank Jordan; Vera Adam-Vizi
Journal:  Biochim Biophys Acta       Date:  2016-08-18

5.  Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.

Authors:  Shane C Quinonez; Andrea H Seeley; Mary Seeterlin; Eleanor Stanley; Ayesha Ahmad
Journal:  Mol Genet Metab Rep       Date:  2014-08-15

6.  The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.

Authors:  Anar Alfarsi; Majid Alfadhel; Seham Alameer; Amal Alhashem; Brahim Tabarki; Faroug Ababneh; Ahmed Al Fares; Fuad Al Mutairi
Journal:  Mol Genet Metab Rep       Date:  2021-10-23

7.  Metabolic causes of epileptic encephalopathy.

Authors:  Joe Yuezhou Yu; Phillip L Pearl
Journal:  Epilepsy Res Treat       Date:  2013-05-22
  7 in total

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