Literature DB >> 35403876

Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.

Roberta Di Giacomo1, Ettore Salsano2, Francesco Deleo3, Chiara Pastori3, Giuseppe Didato3, Andrea Stabile3, Rosalba Ferrario4, Anna Rita Giovagnoli4, Chiara Benzoni2, Lidia Sarro5, Elisa Visani3, Laura Canafoglia3.   

Abstract

Entities:  

Mesh:

Year:  2022        PMID: 35403876     DOI: 10.1007/s00415-022-11129-4

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   6.682


× No keyword cloud information.
  14 in total

1.  Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

Authors:  O A Bodamer; D S Rosenblatt; S H Appel; A L Beaudet
Journal:  Neurology       Date:  2001-04-24       Impact factor: 9.910

2.  Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.

Authors:  A L Boxer; J H Kramer; K Johnston; J Goldman; R Finley; B L Miller
Journal:  Neurology       Date:  2005-04-26       Impact factor: 9.910

3.  Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.

Authors:  Xiuwei Ma; Yuehua Zhang; Yanling Yang; Xiaoyan Liu; Zhixian Yang; Xinhua Bao; Jiong Qin; Xiru Wu
Journal:  Brain Dev       Date:  2011-07-20       Impact factor: 1.961

4.  Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

Authors:  D S Rosenblatt; A L Aspler; M I Shevell; B A Pletcher; W A Fenton; M R Seashore
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

5.  Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Authors:  Anne Chun-Hui Tsai; Chantal F Morel; Gunter Scharer; Michael Yang; Jordan P Lerner-Ellis; David S Rosenblatt; Janet A Thomas
Journal:  Am J Med Genet A       Date:  2007-10-15       Impact factor: 2.802

6.  The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

Authors:  C Thauvin-Robinet; E Roze; G Couvreur; M-H Horellou; F Sedel; D Grabli; G Bruneteau; C Tonneti; A Masurel-Paulet; D Perennou; T Moreau; M Giroud; H Ogier de Baulny; S Giraudier; L Faivre
Journal:  J Neurol Neurosurg Psychiatry       Date:  2008-02-01       Impact factor: 10.154

7.  Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Authors:  Roberta Biancheri; Roberto Cerone; Andrea Rossi; Maria Cristina Schiaffino; Ubaldo Caruso; Giuseppe Minniti; Maria Viviana Perrone; Paolo Tortori-Donati; Edvige Veneselli
Journal:  Epilepsia       Date:  2002-06       Impact factor: 5.864

Review 8.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

9.  Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.

Authors:  Mathilde Lemoine; Arnaud François; Steven Grangé; Marion Rabant; Valérie Châtelet; David Cassiman; Emilie Cornec-Le Gall; Damien Ambrosetti; Georges Deschênes; Jean-François Benoist; Dominique Guerrot
Journal:  Kidney Int Rep       Date:  2018-06-08

Review 10.  Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.

Authors:  Silvia Kalantari; Brigida Brezzi; Valeria Bracciamà; Antonella Barreca; Paolo Nozza; Tiziana Vaisitti; Antonio Amoroso; Silvia Deaglio; Marco Manganaro; Francesco Porta; Marco Spada
Journal:  Orphanet J Rare Dis       Date:  2022-02-02       Impact factor: 4.123

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.