Literature DB >> 30343438

A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report.

Mengqi Zhang1, Shupeng Shi1,2, Haoran Zhang1,2, Lihui Liu1, Linchao Wu1, Bo Xiao1, Weiping Liu3.   

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Year:  2018        PMID： 30343438     DOI： 10.1007/s10072-018-3596-7

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  11 in total

Review 1.  ABC transporters: from microorganisms to man.

Authors:  C F Higgins
Journal:  Annu Rev Cell Biol       Date:  1992

2.  A simple method for DNA extraction from leukocytes for use in PCR.

Authors:  H A Lewin; J A Stewart-Haynes
Journal:  Biotechniques       Date:  1992-10       Impact factor: 1.993

3.  Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy.

Authors:  Nathalie Cartier; Salima Hacein-Bey-Abina; Cynthia C Bartholomae; Pierre Bougnères; Manfred Schmidt; Christof Von Kalle; Alain Fischer; Marina Cavazzana-Calvo; Patrick Aubourg
Journal:  Methods Enzymol       Date:  2012       Impact factor: 1.600

4.  Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.

Authors:  L Bezman; A B Moser; G V Raymond; P Rinaldo; P A Watkins; K D Smith; N E Kass; H W Moser
Journal:  Ann Neurol       Date:  2001-04       Impact factor: 10.422

Review 5.  ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

Authors:  S Kemp; A Pujol; H R Waterham; B M van Geel; C D Boehm; G V Raymond; G R Cutting; R J Wanders; H W Moser
Journal:  Hum Mutat       Date:  2001-12       Impact factor: 4.878

Review 6.  X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

Authors:  Stephan Kemp; Johannes Berger; Patrick Aubourg
Journal:  Biochim Biophys Acta       Date:  2012-03-28

7.  Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy.

Authors:  C D Boehm; G R Cutting; M B Lachtermacher; H W Moser; S S Chong
Journal:  Mol Genet Metab       Date:  1999-02       Impact factor: 4.797

8.  Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.

Authors:  J Mosser; A M Douar; C O Sarde; P Kioschis; R Feil; H Moser; A M Poustka; J L Mandel; P Aubourg
Journal:  Nature       Date:  1993-02-25       Impact factor: 49.962

9.  X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Authors:  Marc Engelen; Stephan Kemp; Marianne de Visser; Björn M van Geel; Ronald J A Wanders; Patrick Aubourg; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2012-08-13       Impact factor: 4.123

10.  Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

Authors:  Fernanda dos Santos Pereira; Ursula Matte; Clarissa Troller Habekost; Raphael Machado de Castilhos; Antonette Souto El Husny; Charles Marques Lourenço; Angela M Vianna-Morgante; Liane Giuliani; Marcial Francis Galera; Rachel Honjo; Chong Ae Kim; Juan Politei; Carmen Regla Vargas; Laura Bannach Jardim
Journal:  PLoS One       Date:  2012-03-29       Impact factor: 3.240
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  1 in total

1.  Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.

Authors:  Antonio Federico
Journal:  Neurol Sci       Date:  2020-03       Impact factor: 3.307
  1 in total

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