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Clinical Biochemistry, 2015 BACKGROUND Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures.
Marianne Rohrbach +2 more
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Pathology - Research and Practice, 1989
Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
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Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
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Screening for Niemann-Pick type C disease in neurodegenerative diseases
Journal of Clinical Neuroscience, 2019 Niemann Pick type C (NP-C) is an autosomal recessive neurovisceral lysosomal storage disorder caused by NPC1 and NPC2 gene mutations. We screened for NP-C 24 patients with Progressive Supranuclear Palsy and 10 with Multiple System Atrophy cerebellar type
Sara Boenzi +2 more
exaly +2 more sources
The Indian Journal of Pediatrics, 1970
A case of Niemann Pick disease with a characteristic clinical picture and confirmatory bone marrow findings is reported. This is the third case report from India and the first case to be reported in a Mysorean child. In addition, the child also showed evidences of hemolytic anemia, the exact nature of which could not be confirmed.
I, Amla, G S, Gopalakrishna, N, Kannan
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A case of Niemann Pick disease with a characteristic clinical picture and confirmatory bone marrow findings is reported. This is the third case report from India and the first case to be reported in a Mysorean child. In addition, the child also showed evidences of hemolytic anemia, the exact nature of which could not be confirmed.
I, Amla, G S, Gopalakrishna, N, Kannan
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Journal of the European Academy of Dermatology and Venereology, 2000
AbstractNiemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread ...
A A, Raddadi, A A, Al Twaim
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AbstractNiemann–Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread ...
A A, Raddadi, A A, Al Twaim
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Enteropathy in Niemann-Pick disease
Zeitschrift für Kinderheilkunde, 1973Three consecutive cases of Niemann-Pick disease with predominant enteropathy were seen. The diagnosis was confirmed by the demonstration of typical foamy cells in the bone marrow, small intestinal mucosa, and liver. The enteropathy was apparent in steatorrhoea, xylose malabsorption, protein loss etc.
B, Hager-Malecka +3 more
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Lung disease in niemann–pick disease
Pediatric Pulmonology, 2007AbstractBackgroundLung involvement in children with Niemann–Pick disease has rarely been studied systematically.ObjectiveTo assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann–Pick diseases.DesignRetrospective analysis of patient records.PatientsThirteen patients, with type A (n = 1), type B (n = 10), and
Nathalie, Guillemot +4 more
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Types A and B Niemann-Pick disease
Best Practice & Research Clinical Endocrinology & Metabolism, 2015Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections,
Edward H, Schuchman +1 more
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Ocular Findings in Niemann-Pick Disease
American Journal of Ophthalmology, 1975Light and electron microscopic studies of the eyes of a 3 1/2-year-old girl who died of Niemann-Pick disease disclosed accumulation of intralysosomal lipid material in all cells other than those that were pigmented. The nonpigmented layer of the ciliary process and the ganglion cells of the retina were especially involved.
Libert, Jacques +2 more
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Current Opinion in Hematology, 2000
Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in ...
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Niemann-Pick disease, originally defined in terms of its histology as a reticuloendotheliosis, is now subdivided on the basis of biochemical and molecular criteria into two separate classes. This categorization has been aided by the discovery of the genes for acid sphingomyelinase, deficient in types A and B, and for the NPC-1 protein, deficient in ...
openaire +2 more sources