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Literature DB >> 3140961

Anderson-Fabry disease.

S H Morgan¹, M A Crawfurd.

Abstract

Mesh：

Substances：
Genetic Markers

Year: 1988 PMID： 3140961 PMCID： PMC1834463 DOI： 10.1136/bmj.297.6653.872

Source DB: PubMed Journal: BMJ ISSN： 0959-8138

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21 in total

1. Assignment of alpha-galactosidase (alpha GAL) to the q22 leads to qter region of the X chromosome in man.

Authors: T B Shows; J A Brown; L L Haley; A P Goggin; R L Eddy; M G Byers
Journal: Cytogenet Cell Genet Date: 1978

2. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Authors: R J Desnick; K J Dean; G Grabowski; D F Bishop; C C Sweeley
Journal: Proc Natl Acad Sci U S A Date: 1979-10 Impact factor: 11.205

3. Relief of pain of Fabry's disease by diphenylhydantoin.

Authors: L A Lockman; D B Hunninghake; W Krivit; R J Desnick
Journal: Neurology Date: 1973-08 Impact factor: 9.910

4. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.

Authors: R O Brady; J F Tallman; W G Johnson; A E Gal; W R Leahy; J M Quirk; A S Dekaban
Journal: N Engl J Med Date: 1973-07-05 Impact factor: 91.245

5. Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.

Authors: S H Morgan; J K Cheshire; T M Wilson; K MacDermot; M A Crawfurd
Journal: Pediatr Nephrol Date: 1987-07 Impact factor: 3.714

6. Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease.

Authors: J L Touraine; M C Malik; J Traeger; H Perrot; I Maire
Journal: Lancet Date: 1979-05-19 Impact factor: 79.321

7. Ten-year experience in renal transplantation for Fabry's disease.

Authors: S E Maizel; R L Simmons; C Kjellstrand; D S Fryd
Journal: Transplant Proc Date: 1981-03 Impact factor: 1.066

8. Report of the committee on the genetic constitution of the x and y chromosomes. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

Authors: O J Miller; M Siniscalco
Journal: Cytogenet Cell Genet Date: 1982

9. [Fabry's disease. Carbamazepine therapy in acrodyniform syndrome].

Authors: G Lenoir; M Rivron; M C Gubler; J L Dufier; F S Tome; M Guivarch
Journal: Arch Fr Pediatr Date: 1977-10

10. Fabry's disease: alpha-galactosidase deficiency.

Authors: J A Kint
Journal: Science Date: 1970-02-27 Impact factor: 47.728

8 in total

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

Authors: Robin L Bennett; Kimberly A Hart; Erin O'Rourke; John A Barranger; Jack Johnson; Kay D MacDermot; Gregory M Pastores; Robert D Steiner; Ravi Thadhani
Journal: J Genet Couns Date: 2002-04 Impact factor: 2.537

2. Anderson-Fabry disease in Austria.

Authors: Matthias Lorenz; Anna-Christina Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; Reinhard Kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Journal: Wien Klin Wochenschr Date: 2003-04-30 Impact factor: 1.704

Anderson-Fabry disease.

1. Assignment of alpha-galactosidase (alpha GAL) to the q22 leads to qter region of the X chromosome in man.

2. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

3. Relief of pain of Fabry's disease by diphenylhydantoin.

4. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.

5. Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes.

6. Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease.

7. Ten-year experience in renal transplantation for Fabry's disease.

8. Report of the committee on the genetic constitution of the x and y chromosomes. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.

9. [Fabry's disease. Carbamazepine therapy in acrodyniform syndrome].

10. Fabry's disease: alpha-galactosidase deficiency.

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

2. Anderson-Fabry disease in Austria.

3. Treatment of lysosomal storage disorders.

4. Medical genetics: 3. An approach to the adult with a genetic disorder.

Review 5. Anderson-Fabry disease (angiokeratoma corporis diffusum universale).

6. T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.

7. The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

8. Anderson-Fabry disease: an unusual presentation with lymphadenopathy.