Results 81 to 90 of about 2,679,717 (208)
Niemann-pick disease type A-a case report [PDF]
, 2017 Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Tangde, Ashwini +9 more
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Pfrieger's Digest Niemann-Pick Diseases Issue 12; August 2024-December 2024
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Fw, Pfrieger
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Niemann - Pick Disease Type B: A Case Report
, 2018 Niemann-Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving liver, spleen, lymph nodes, nervous system, lungs and bone marrow.
Md Rukunuzzaman +3 more
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Pfrieger's Digest Niemann-Pick Diseases Issue 14; May 2025-August 2025
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.Summaries of latest research ...
Fw, Pfrieger
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Pfrieger's Digest Niemann-Pick Diseases Issue 15; September 2025-December 2025
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.Summaries of latest research ...
Fw, Pfrieger
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Promethean Parenting: the family of Niemann-Pick patients.
, 2010 The Niemann-Pick is an autosomal, recessive, rare and with a variable genomic imprinting disease. It involves three phenotypicalities (MNP-A, MNP-B, MNP-C) that differ by age of onset, symptoms and complexity of prognosis with a rather linear maintenance
ACQUARINI, ELENA
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, 1989 The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
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Pfrieger's Digest Niemann-Pick Diseases Issue 13; January 2025-Apri 2025
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Fw, Pfrieger
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Miglustat in Niemann-Pick disease type c (NPC)
, 2008 Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000) +4 more
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A corresponding Niemann-Pick mutation inactivates RsASML.
, 2014 RsASML activity of WT and H280R proteins towards pNPPC. The H280R substitution in RsASML corresponds to the H427R mutation in aSMase found in a subset of Niemann-Pick Type A patients.
Michael V. Airola (281288) +3 more
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