Literature DB >> 688147

Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family.

P G Fernandez, J H Day, N E Simpson, P K Zachariah.   

Abstract

In one family two genetic diseases were transmitted as autosomal dominant traits; hereditary angioneurotic edema was inherited from the paternal side and Charcot-Marie Tooth disease from the maternal side of the family. The conditions occurred separately in 8 and 11 members respectively and together (an exceedingly rare occurrence) in 3. Of six siblings, two girls and four boys, all had Charcot-Marie-Tooth disease, and three, the two girls and one of the boys, also had hereditary angioneurotic edema.

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Year:  1978        PMID: 688147      PMCID: PMC1818506     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  13 in total

1.  A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.

Authors:  V H DONALDSON; R R EVANS
Journal:  Am J Med       Date:  1963-07       Impact factor: 4.965

2.  HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.

Authors:  F S ROSEN; J PENSKY; V DONALDSON; P CHARACHE
Journal:  Science       Date:  1965-05-14       Impact factor: 47.728

3.  Pathological changes in muscle biopsies from patients with peroneal muscular atrophy.

Authors:  G R HAASE; G M SHY
Journal:  Brain       Date:  1960-12       Impact factor: 13.501

4.  Hereditary angioedema and "familial" lupus erythematosus in identical twin boys.

Authors:  P F Kohler; J Percy; W M Campion; C J Smyth
Journal:  Am J Med       Date:  1974-03       Impact factor: 4.965

Review 5.  Fatty acid metabolism in multiple sclerosis.

Authors:  R H Thompson
Journal:  Biochem Soc Symp       Date:  1972

Review 6.  Hereditary angio-oedema: a review with particular reference to pathogenesis and treatment.

Authors:  K Hadjiyannaki; P J Lachmann
Journal:  Clin Allergy       Date:  1971-06

Review 7.  The complement system of man (second of four parts).

Authors:  S Ruddy; I Gigli; K F Austen
Journal:  N Engl J Med       Date:  1972-09-14       Impact factor: 91.245

8.  Nerve conduction studies in Charcot-Marie-Tooth disease.

Authors:  P M Humberstone
Journal:  Acta Neurol Scand       Date:  1972       Impact factor: 3.209

9.  The genetics of hereditary angioedema: a hypothesis.

Authors:  M H Shokeir
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438

10.  Severe sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).

Authors:  A C ENGLAND; D DENNY-BROWN
Journal:  AMA Arch Neurol Psychiatry       Date:  1952-01
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  2 in total

1.  Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.

Authors:  Angelo Agostoni; Emel Aygören-Pürsün; Karen E Binkley; Alvaro Blanch; Konrad Bork; Laurence Bouillet; Christoph Bucher; Anthony J Castaldo; Marco Cicardi; Alvin E Davis; Caterina De Carolis; Christian Drouet; Christiane Duponchel; Henriette Farkas; Kálmán Fáy; Béla Fekete; Bettina Fischer; Luigi Fontana; George Füst; Roberto Giacomelli; Albrecht Gröner; C Erik Hack; George Harmat; John Jakenfelds; Mathias Juers; Lajos Kalmár; Pál N Kaposi; István Karádi; Arianna Kitzinger; Tímea Kollár; Wolfhart Kreuz; Peter Lakatos; Hilary J Longhurst; Margarita Lopez-Trascasa; Inmaculada Martinez-Saguer; Nicole Monnier; István Nagy; Eva Németh; Erik Waage Nielsen; Jan H Nuijens; Caroline O'grady; Emanuela Pappalardo; Vincenzo Penna; Carlo Perricone; Roberto Perricone; Ursula Rauch; Olga Roche; Eva Rusicke; Peter J Späth; George Szendei; Edit Takács; Attila Tordai; Lennart Truedsson; Lilian Varga; Beáta Visy; Kayla Williams; Andrea Zanichelli; Lorenza Zingale
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

2.  Successful use of daily intravenous infusion of C1 esterase inhibitor concentrate in the treatment of a hereditary angioedema patient with ascites, hypovolemic shock, sepsis, renal and respiratory failure.

Authors:  Hoang Pham; Stephanie Santucci; William H Yang
Journal:  Allergy Asthma Clin Immunol       Date:  2014-12-11       Impact factor: 3.406

  2 in total

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