Literature DB >> 32052163

Comment on: "Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers".

Yılmaz Yıldız1, Ayşegül Tokatlı2.   

Abstract

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Year:  2020        PMID： 32052163     DOI： 10.1007/s00415-020-09752-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  8 in total

1.  Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Authors:  M Fanin; A Anichini; D Cassandrini; C Fiorillo; S Scapolan; C Minetti; M Cassanello; M A Donati; G Siciliano; A D'Amico; F Lilliu; C Bruno; C Angelini
Journal:  Clin Genet       Date:  2011-10-12       Impact factor: 4.438

Review 2.  Deep intronic mutations and human disease.

Authors:  Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca
Journal:  Hum Genet       Date:  2017-05-12       Impact factor: 4.132

3.  Multiple acyl-COA dehydrogenase deficiency in elderly carriers.

Authors:  Francesco Macchione; Leonardo Salviati; Andrea Bordugo; Monica Vincenzi; Marta Camilot; Francesca Teofoli; Elia Pancheri; Roberta Zordan; Cinzia Bertolin; Silvia Rossi; Gaetano Vattemi; Paola Tonin
Journal:  J Neurol       Date:  2020-01-29       Impact factor: 4.849

4.  Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Authors:  Yılmaz Yıldız; Beril Talim; Goknur Haliloglu; Haluk Topaloglu; Zuhal Akçören; Ali Dursun; Hatice Serap Sivri; Turgay Coşkun; Ayşegül Tokatlı
Journal:  Pediatr Neurol       Date:  2019-06-28       Impact factor: 3.372

5.  Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.

Authors:  C Antozzi; B Garavaglia; M Mora; M Rimoldi; L Morandi; E Ursino; S DiDonato
Journal:  Neurology       Date:  1994-11       Impact factor: 9.910

6.  Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Authors:  Rikke K J Olsen; Brage S Andresen; Ernst Christensen; Peter Bross; Flemming Skovby; Niels Gregersen
Journal:  Hum Mutat       Date:  2003-07       Impact factor: 4.878

7.  Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Authors:  Jenny L Kerschner; Sujana Ghosh; Alekh Paranjapye; Wilmel R Cosme; Marie-Pierre Audrézet; Miyuki Nakakuki; Hiroshi Ishiguro; Claude Férec; Johanna Rommens; Ann Harris
Journal:  J Mol Diagn       Date:  2018-10-05       Impact factor: 5.568

8.  Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Authors:  Sarah C Grünert
Journal:  Orphanet J Rare Dis       Date:  2014-07-22       Impact factor: 4.123
  8 in total

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