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Literature DB >> 17948499

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.

J M Opitz, F C Stiles, D Wise, R R Race, R Sanger, G R Von Gemmingen, R R Kierland, E G Cross, W P De Groot.

Abstract

Entities: Disease

Year: 1965 PMID： 17948499 PMCID： PMC1932618

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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30 in total

1. [Enterocolitis as a symptom of angiokeratoma corporis diffusum (Ruiter-Pompen-Wyers-Kühnau thesaurismosis)].

Authors: R G VAN WAYJEN
Journal: Ned Tijdschr Geneeskd Date: 1958-09-27

2. [Not Available].

Authors: M RUITER
Journal: Excerpta Med (Dermatol) Date: 1959-02

3. [Fabry's angiokeratosis as cutaneous expression of general disease; new individual case].

Authors: F SIGUIER; B DUPERRAT; C BETOURNE; A HANAUT
Journal: Bull Mem Soc Med Hop Paris Date: 1956 Mar 9-23

4. Polariscopic and histochemical studies in angiokeratoma corporis diffusum.

Authors: R B PITTELKOW; R R KIERLAND; H MONTGOMERY
Journal: AMA Arch Derm Date: 1957-07

5. Angiokeratoma corporis diffusum.

Authors: R B PITTELKOW; R R KIERLAND; H MONTGOMERY
Journal: AMA Arch Derm Date: 1955-12

6. Histological investigation of the skin in angiokeratoma corporis diffusum in particular with regard to the associated disturbance of phosphatid metabolism.

Authors: M RUITER
Journal: Dermatologica Date: 1954-11

7. Sequential tests for the detection of linkage.

Authors: N E MORTON
Journal: Am J Hum Genet Date: 1955-09 Impact factor: 11.025

8. [Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease].

Authors: H HORNBOSTEL; K SCRIBA
Journal: Klin Wochenschr Date: 1953-01-15

9. [Angiokeratoma corporis diffusum universalis with cardiovasorenal symptoms as a new form of thesaurismosis].

Authors: H HORNBOSTEL
Journal: Helv Med Acta Date: 1952-10

10. Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly.

Authors: A BROWN; J A MILNE
Journal: Glasgow Med J Date: 1952-09

23 in total

Review 1. Glomerular diseases: genetic causes and future therapeutics.

Authors: Chih-Kang Chiang; Reiko Inagi
Journal: Nat Rev Nephrol Date: 2010-07-20 Impact factor: 28.314

2. [Electron microscopic observations in internal organs in morbus Fabry (author's transl)].

Authors: J Roth; H Roth
Journal: Virchows Arch A Pathol Anat Histol Date: 1978-05-05

Review 3. Progress in investigations of sphingolipidoses.

Authors: M Adachi; L Schneck; B W Volk
Journal: Acta Neuropathol Date: 1978-08-07 Impact factor: 17.088

4. Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Authors: M W Spence; J T Clarke; D M D'Entremont; G A Sapp; E R Smith; A L Goldbloom; G Davar
Journal: J Med Genet Date: 1978-12 Impact factor: 6.318

5. New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups.

Authors: M Zatz; S B Itskan; R Sanger; O Frota-Pessoa; P H Saldanha
Journal: J Med Genet Date: 1974-12 Impact factor: 6.318

6. [Neurological symptoms in Fabry's disease. Report of a case with neuromuscular symptoms and review of the literature].

Authors: H Pilz; E Volles; H A Paul; A Denden
Journal: Z Neurol Date: 1972