Literature DB >> 32775522

Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation.

Ghazal Haeri1, Fahimeh Haji Akhoundi2, Afagh Alavi3, Siamak Abdi4, Mohammad Rohani1.   

Abstract

Entities:  

Keywords:  DCAF17; Woodhouse‐Sakati syndrome; alopecia; hypogonadotropic hypogonadism; neurodegeneration with brain iron accumulation; seizure

Year:  2020        PMID: 32775522      PMCID: PMC7396833          DOI: 10.1002/mdc3.12990

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


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  5 in total

1.  Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.

Authors:  A H Abusrair; S Bohlega; A Al-Semari; F S Al-Ajlan; K Al-Ahmadi; B Mohamed; A AlDakheel
Journal:  AJNR Am J Neuroradiol       Date:  2018-11-08       Impact factor: 3.825

Review 2.  Wilson disease and other neurodegenerations with metal accumulations.

Authors:  Petr Dusek; Tomasz Litwin; Anna Czlonkowska
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

3.  Patterns of neurological manifestations in Woodhouse-Sakati Syndrome.

Authors:  Saeed Bohlega; Ali H Abusrair; Fahad S Al-Ajlan; Norah Alharbi; Abdulaziz Al-Semari; Balsam Bohlega; Dalya Abualsaud; Fowzan Alkuraya
Journal:  Parkinsonism Relat Disord       Date:  2019-10-13       Impact factor: 4.891

4.  Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Authors:  Pedro Louro; João Durães; Diana Oliveira; Sandra Paiva; Lina Ramos; Maria Carmo Macário
Journal:  Am J Med Genet A       Date:  2019-07-26       Impact factor: 2.802

5.  Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Authors:  Mohammad Almeqdadi; Jennifer L Kemppainen; Pavel N Pichurin; Ralitza H Gavrilova
Journal:  Am J Case Rep       Date:  2018-03-25
  5 in total
  1 in total

Review 1.  Cerebral Iron Deposition in Neurodegeneration.

Authors:  Petr Dusek; Tim Hofer; Jan Alexander; Per M Roos; Jan O Aaseth
Journal:  Biomolecules       Date:  2022-05-17
  1 in total

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