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Literature DB >> 3088327

Niemann-Pick disease type B: clinical signs and follow-up of a new case.

Abstract

A girl affected by Niemann-Pick disease type B is reported. The patient presented unusual skin lesions of nummular eczematous dermatitis, signs of delayed puberty and stunted physical development, together with the typical symptoms involving visceral organs and lungs. This disease may therefore indirectly affect more body organs than assumed.

Entities: Disease Gene Species

Mesh：

Year: 1986 PMID： 3088327 DOI： 10.1007/bf01813906

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

12 in total

1. 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

2. Three cases of Niemann Pick's disease in children.

Authors: W I FORSYTHE; E F McKEOWN; D W NEILL
Journal: Arch Dis Child Date: 1959-10 Impact factor: 3.791

3. Niemann-Pick disease: a review of eighteen patients.

Authors: A C CROCKER; S FARBER
Journal: Medicine (Baltimore) Date: 1958-02 Impact factor: 1.889

4. [Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)].

Authors: K Harzer; K W Ruprecht; D Seuffer-Schulze; U Jans
Journal: Albrecht Von Graefes Arch Klin Exp Ophthalmol Date: 1978-05-02

Review 5. Biochemical and metabolic basis of familial sphingolipidoses.

Authors: R O Brady
Journal: Semin Hematol Date: 1972-07 Impact factor: 3.851

6. Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease.

Authors: M T Vanier; R Rousson; I Garcia; G Bailloud; M C Juge; A Revol; P Louisot
Journal: Clin Genet Date: 1985-01 Impact factor: 4.438

Niemann-Pick disease type B: clinical signs and follow-up of a new case.

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

2. Three cases of Niemann Pick's disease in children.

3. Niemann-Pick disease: a review of eighteen patients.

4. [Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)].

Review 5. Biochemical and metabolic basis of familial sphingolipidoses.

6. Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease.

7. Niemann-Pick disease: report of a case with skin involvement.

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

9. Clinical and biochemical study of a child with the non-neuronopathic-Type B form of Niemann-Pick disease.

10. Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B.

1. A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

2. Progressive liver failure in a patient with adult Niemann-Pick disease associated with generalized AL amyloidosis.