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Literature DB >> 9519183

Fabry's disease: a multidisciplinary disorder.

F P Peters¹, A Sommer, A Vermeulen, E C Cheriex, T L Kho.

Abstract

Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.

Entities: Chemical Disease Gene

Mesh：

Year: 1997 PMID： 9519183 PMCID： PMC2431567 DOI： 10.1136/pgmj.73.865.710

Source DB: PubMed Journal: Postgrad Med J ISSN： 0032-5473 Impact factor: 2.401

8 in total

1. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody.

Authors: M Fukushima; Y Tsuchiyama; T Nakato; T Yokoi; H Ikeda; S Yoshida; T Kusumoto; K Itoh; H Sakuraba
Journal: Am J Kidney Dis Date: 1995-12 Impact factor: 8.860

2. [Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem].

Authors: B Senn; A Capone; G Spina; M Emmenegger
Journal: Klin Monbl Augenheilkd Date: 1995-05 Impact factor: 0.700

3. An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

Authors: S Nakao; T Takenaka; M Maeda; C Kodama; A Tanaka; M Tahara; A Yoshida; M Kuriyama; H Hayashibe; H Sakuraba
Journal: N Engl J Med Date: 1995-08-03 Impact factor: 91.245

4. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease.

Authors: E Uyama; N Ueno; M Uchino; T Narahara; M Owada; T Taketomi; M Ando
Journal: Headache Date: 1995-09 Impact factor: 5.887

5. Successful treatment of painful crises of Fabry disease with low dose morphine.

Authors: K E Gordon; M D Ludman; G A Finley
Journal: Pediatr Neurol Date: 1995-04 Impact factor: 3.372

6. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation.

Authors: J F Mosnier; C Degott; J Bedrossian; G Molas; F Degos; A Pruna; F Potet
Journal: Transplantation Date: 1991-04 Impact factor: 4.939

7. Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine.

Authors: M Kotani; I Kawashima; H Ozawa; K Ogura; T Ariga; T Tai
Journal: Arch Biochem Biophys Date: 1994-04 Impact factor: 4.013

8. Punctate and linear angiectases. Anderson-Fabry disease (angiokeratoma corporis diffusum).

Authors: K Werninghaus; R Raab; M Palko; J Bhawan
Journal: Arch Dermatol Date: 1995-01

8 in total

5 in total

Fabry's disease: a multidisciplinary disorder.

1. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody.

2. [Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem].

3. An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

4. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease.

5. Successful treatment of painful crises of Fabry disease with low dose morphine.

6. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation.

7. Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine.

8. Punctate and linear angiectases. Anderson-Fabry disease (angiokeratoma corporis diffusum).

1. Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

2. Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

3. Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

4. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

5. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.