Literature DB >> 17487569

Hearing loss in a family affected by Fabry disease.

Bruno Sergi1, Guido Conti.   

Abstract

Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues. Otological manifestations consist of hearing loss and mild vestibular disorders. In this report we describe a family of five members affected by Fabry disease with four subjects showing inner ear involvement.

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Year:  2007        PMID： 17487569     DOI： 10.1007/s10545-007-0523-0

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

Authors:  K D MacDermot; A Holmes; A H Miners
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  Enhanced endothelium-dependent vasodilation in Fabry disease.

Authors:  G Altarescu; D F Moore; R Pursley; U Campia; S Goldstein; M Bryant; J A Panza; R Schiffmann
Journal:  Stroke       Date:  2001-07       Impact factor: 7.914

Review 3.  [The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?].

Authors:  D Malinvaud; P Avan; D P Germain; K Benistan; P Bonfils
Journal:  Rev Med Interne       Date:  2006-01-06       Impact factor: 0.728

Review 4.  Sudden sensorineural hearing loss.

Authors:  G B Hughes; M A Freedman; T J Haberkamp; M E Guay
Journal:  Otolaryngol Clin North Am       Date:  1996-06       Impact factor: 3.346

5.  Hearing loss in Fabry disease: data from the Fabry Outcome Survey.

Authors:  S Hegemann; D Hajioff; G Conti; M Beck; G Sunder-Plassmann; U Widmer; A Mehta; A Keilmann
Journal:  Eur J Clin Invest       Date:  2006-09       Impact factor: 4.686

Review 6.  [Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].

Authors:  D P Germain
Journal:  Rev Med Interne       Date:  2000-12       Impact factor: 0.728

7.  Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy.

Authors:  D Hajioff; Y Enever; R Quiney; J Zuckerman; K Mackermot; A Mehta
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

8.  Prevalence of lysosomal storage disorders.

Authors:  P J Meikle; J J Hopwood; A E Clague; W F Carey
Journal:  JAMA       Date:  1999-01-20       Impact factor: 56.272

9.  Auditory and vestibular findings in Fabry disease: a study of hemizygous males and heterozygous females.

Authors:  G Conti; B Sergi
Journal:  Acta Paediatr Suppl       Date:  2003-12

10.  Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

Authors:  Dominique P Germain; Paul Avan; Augustin Chassaing; Pierre Bonfils
Journal:  BMC Med Genet       Date:  2002-10-11       Impact factor: 2.103
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  2 in total

1.  Inner ear involvement in Anderson-Fabry disease: long-term follow-up during enzyme replacement therapy.

Authors:  B Sergi; G Conti; G Paludetti
Journal:  Acta Otorhinolaryngol Ital       Date:  2010-04       Impact factor: 2.124

2.  Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease.

Authors:  Sergio Carmona; Romina Weinschelbaum; Ana Pardal; Cintia Marchesoni; Paz Zuberbuhler; Patricia Acosta; Guillermo Cáceres; Isaac Kisinovsky; Luciana Bayón; Ricardo Reisin
Journal:  Audiol Res       Date:  2017-07-28
  2 in total

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