Literature DB >> 23436702

Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.

Fadi Alkufri, Tim Harrower, Yusof Rahman, Elaine Hughes, Helen Mundy, Jonathan A Knibb, John Moriarty, Stephen Connor, Michael Samuel.   

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Year:  2013        PMID： 23436702     DOI： 10.1002/mds.25276

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

Review 1.  Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Authors:  Davide Tonduti; Luisa Chiapparini; Isabella Moroni; Anna Ardissone; Giovanna Zorzi; Federica Zibordi; Sergio Raspante; Celeste Panteghini; Barbara Garavaglia; Nardo Nardocci
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

Review 2.  Parkinsonism and inborn errors of metabolism.

Authors:  A Garcia-Cazorla; S T Duarte
Journal:  J Inherit Metab Dis       Date:  2014-06-07       Impact factor: 4.982

3.  Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Authors:  Albert L Misko; Ye Liang; Joshua B Kohl; Florian Eichler
Journal:  Neurol Genet       Date:  2020-07-14

4.  Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Authors:  Barbara Scelsa; Serena Gasperini; Andrea Righini; Maria Iascone; Valeria G Brazzoduro; Pierangelo Veggiotti
Journal:  Mol Genet Genomic Med       Date:  2019-03-21       Impact factor: 2.183

5.  The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.

Authors:  Yu Abe; Yu Aihara; Wakaba Endo; Hiroshi Hasegawa; Kimiyoshi Ichida; Mitsugu Uematsu; Shigeo Kure
Journal:  Mol Genet Metab Rep       Date:  2021-02-01

6.  Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy.

Authors:  Sangeetha Yoganathan; SniyaVALSA Sudhakar; Maya Thomas; Atanu Kumar Dutta; Sumita Danda; Mahalakshmi Chandran
Journal:  Iran J Child Neurol       Date:  2018
  6 in total

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