Literature DB >> 17372139

Phenotypes of female adrenoleukodystrophy.

H H Jung1, I Wimplinger, S Jung, K Landau, A Gal, F L Heppner.   

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Year:  2007        PMID： 17372139     DOI： 10.1212/01.wnl.0000257129.51273.73

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Granny trips down: is she carrying the big bad wolf?

Authors:  L Tremolizzo; M Patassini; G Uziel; B Castellotti; C Gellera; C Ferrarese; I Appollonio
Journal:  Neurol Sci       Date:  2012-05-17       Impact factor: 3.307

2.  Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.

Authors:  Anne-Katrin Guettsches; Alma Kuechler; Andreas Gal; Werner Schmitz; Martin Tegenthoff; Matthias Vorgerd
Journal:  J Neurol       Date:  2010-03-02       Impact factor: 4.849

Review 3.  The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.

Authors:  Lúcia Fadiga; Miguel Melo; Joana Saraiva; Isabel Paiva
Journal:  Hormones (Athens)       Date:  2021-10-15       Impact factor: 2.885

Review 4.  Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.

Authors:  Stephan Kemp; Irene C Huffnagel; Gabor E Linthorst; Ronald J Wanders; Marc Engelen
Journal:  Nat Rev Endocrinol       Date:  2016-06-17       Impact factor: 43.330

5.  Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Authors:  Ettore Salsano; Silvia Tabano; Silvia M Sirchia; Patrizia Colapietro; Barbara Castellotti; Cinzia Gellera; Marco Rimoldi; Viviana Pensato; Caterina Mariotti; Davide Pareyson; Monica Miozzo; Graziella Uziel
Journal:  Orphanet J Rare Dis       Date:  2012-01-26       Impact factor: 4.123

6.  Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.

Authors:  Jessica R C Priestley; Laura A Adang; Sarah Drewes Williams; Uta Lichter-Konecki; Caitlin Menello; Nicole M Engelhardt; James C DiPerna; Brenda DiBoscio; Rebecca C Ahrens-Nicklas; Andrew C Edmondson; Francis Jeshira Reynoso Santos; Can Ficicioglu
Journal:  Int J Neonatal Screen       Date:  2022-03-23

7.  A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Authors:  Rosa Campopiano; Cinzia Femiano; Maria Antonietta Chiaravalloti; Rosangela Ferese; Diego Centonze; Fabio Buttari; Stefania Zampatti; Mirco Fanelli; Stefano Amatori; Carmelo D'Alessio; Emiliano Giardina; Francesco Fornai; Francesca Biagioni; Marianna Storto; Stefano Gambardella
Journal:  Genes (Basel)       Date:  2021-05-19       Impact factor: 4.096
  7 in total

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