Literature DB >> 8598869

Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.

J Kreuder1, A Borkhardt, R Repp, A Pekrun, B Göttsche, U Gottschalk, H Reichmann, W Schachenmayr, K Schlegel, F Lampert.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8598869     DOI： 10.1056/NEJM199604253341705

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  22 in total

Review 1.  Metabolic Myoglobinuria.

Authors:  Emanuele Barca; Valentina Emmanuele; Salvatore Billi DiMauro
Journal:  Curr Neurol Neurosci Rep       Date:  2015-10       Impact factor: 5.081

Review 2.  To fire the train: a second malignant-hyperthermia gene.

Authors:  K Hogan
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 3.  Neuromuscular disorders of glycogen metabolism.

Authors:  Elisabetta Gazzerro; Antoni L Andreu; Claudio Bruno
Journal:  Curr Neurol Neurosci Rep       Date:  2013-03       Impact factor: 5.081

Review 4.  Acute rhabdomyolysis and inflammation.

Authors:  Yamina Hamel; Asmaa Mamoune; François-Xavier Mauvais; Florence Habarou; Laetitia Lallement; Norma Beatriz Romero; Chris Ottolenghi; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2015-03-17       Impact factor: 4.982

5.  Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis.

Authors:  Marianna Caterino; Margherita Ruoppolo; Gabriella Fulcoli; Tuong Huynth; Stefania Orrù; Antonio Baldini; Francesco Salvatore
Journal:  J Proteome Res       Date:  2009-03       Impact factor: 4.466

6.  Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.

Authors:  Irina Kramerova; Elena Kudryashova; Benjamin Wu; Coen Ottenheijm; Henk Granzier; Melissa J Spencer
Journal:  Hum Mol Genet       Date:  2008-08-01       Impact factor: 6.150

Review 7.  Tarui disease and distal glycogenoses: clinical and genetic update.

Authors:  A Toscano; O Musumeci
Journal:  Acta Myol       Date:  2007-10

8.  Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Authors:  Gabriella Esposito; Luigi Vitagliano; Paola Costanzo; Loredana Borrelli; Rita Barone; Lorenzo Pavone; Paola Izzo; Adriana Zagari; Francesco Salvatore
Journal:  Biochem J       Date:  2004-05-15       Impact factor: 3.857

Review 9.  Two-pore channels at the intersection of endolysosomal membrane traffic.

Authors:  Jonathan S Marchant; Sandip Patel
Journal:  Biochem Soc Trans       Date:  2015-06       Impact factor: 5.407

10.  Structure of a rabbit muscle fructose-1,6-bisphosphate aldolase A dimer variant.

Authors:  Manashi Sherawat; Dean R Tolan; Karen N Allen
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2008-04-19
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.