Literature DB >> 216805

A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

E L Schneider, P G Pentchev, S R Hibbert, A Sawitsky, R O Brady.   

Abstract

A new type (F) of Niemann-Pick disease characterised by childhood onset of splenomegaly, lack of neurological involvement, and diminished sphingomyelinase activity is described. The clinical presentation and heat-labile sphingomyelinase activity of this type F Niemann-Pick disease distinguishes it from other types of Niemann-Pick disease.

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Year:  1978        PMID： 216805      PMCID： PMC1013734          DOI： 10.1136/jmg.15.5.370

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE.

Authors:  R LYNN; R D TERRY
Journal:  Am J Med       Date:  1964-12       Impact factor: 4.965

2.  The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.

Authors:  A C CROCKER
Journal:  J Neurochem       Date:  1961-04       Impact factor: 5.372

3.  In utero diagnosis of Niemann-Pick disease.

Authors:  C J Epstein; R O Brady; E L Schneider; R M Bradley; D Shapiro
Journal:  Am J Hum Genet       Date:  1971-09       Impact factor: 11.025

4.  Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant.

Authors:  R M Blankenship; B R Greenburg; R N Lucas; R D Reynolds; E Beutler
Journal:  JAMA       Date:  1973-07-02       Impact factor: 56.272

Review 5.  The sea-blue histiocyte syndrome, a review: genetic and biochemical studies.

Authors:  A Sawitsky; F Rosner; S Chodsky
Journal:  Semin Hematol       Date:  1972-07       Impact factor: 3.851

6.  Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses.

Authors:  V A McKusick; R R Howell; I E Hussels; E F Neufeld; R E Stevenson
Journal:  Lancet       Date:  1972-05-06       Impact factor: 79.321

7.  Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.

Authors:  H R Sloan; B W Uhlendorf; J N Kanfer; R O Brady; D S Fredrickson
Journal:  Biochem Biophys Res Commun       Date:  1969-03-10       Impact factor: 3.575

8.  A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.

Authors:  A E Gal; R O Brady; S R Hibbert; P G Pentchev
Journal:  N Engl J Med       Date:  1975-09-25       Impact factor: 91.245

9.  Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C.

Authors:  J W Callahan; M Khalil; M Philippart
Journal:  Pediatr Res       Date:  1975-12       Impact factor: 3.756

10.  The relationship between in vitro cellular aging and in vivo human age.

Authors:  E L Schneider; Y Mitsui
Journal:  Proc Natl Acad Sci U S A       Date:  1976-10       Impact factor: 11.205
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  8 in total

1.  Niemann-Pick disease type B in an Irish family.

Authors:  E Lawlor; G T Besley; P Pierce; I J Temperley
Journal:  Ir J Med Sci       Date:  1981-06       Impact factor: 1.568

2.  Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.

Authors:  M B Viana; R Giugliani; V H Leite; M L Barth; C Lekhwani; C M Slade; A Fensom
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

3.  Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease.

Authors:  N Dewhurst; G T Besley; N D Finlayson; A C Parker
Journal:  J Clin Pathol       Date:  1979-11       Impact factor: 3.411

4.  Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies.

Authors:  E F Gilbert; J Callahan; C Viseskul; J M Opitz
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

5.  Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

Authors:  M Elleder; J Cihula
Journal:  Eur J Pediatr       Date:  1983-09       Impact factor: 3.183

6.  Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.

Authors:  G T Besley; A J Hoogeboom; A Hoogeveen; W J Kleijer; H Galjaard
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 7.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

8.  Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Authors:  Somayyeh Hashemian; Peyman Eshraghi; Nafi Dilaver; Hamid Galehdari; Bita Shalbafan; Rahim Vakili; Nosrat Ghaemi; Najmeh Ahangari; Jamileh Rezazadeh Varaghchi; Jawaher Zeighami; Alireza Sedaghat; Majid Aminzadeh; Mohammad Hamid; Alihossein Saberi; Fereshteh Ashtari; Ehsan Ghayoor Karimiani; Gholamreza Shariati
Journal:  Iran J Child Neurol       Date:  2019
  8 in total

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