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Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Вопросы современной педиатрииBackground. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova +7 more
doaj +1 more source
, 2016 Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown.
openaire +2 more sources
Indian pediatrics, 2008 A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick.
Jayesh J, Sheth +2 more
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Pfrieger's Digest Niemann-Pick Type C Disease Issue 4; November 2020 - March 2021
, 2021 Summaries of latest research advances related to Niemann-Pick type C disease based on selected peer-reviewed publications in scientific journals. Revised version.Summaries of latest research advances related to Niemann-Pick type C disease based on ...
Pfrieger, Frank W
core
Pfrieger's Digest Niemann-Pick Type C Disease Issue 1; January 2020-March 2020
, 2020 Summaries of latest research advances related to Niemann-Pick type C disease based on selected peer-reviewed publications in scientific journals. Revised version.Summaries of latest research advances related to Niemann-Pick type C disease based on ...
Fw, Pfrieger
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Vertical supranuclear gaze palsy in Niemann-Pick type C disease
, 2012 Vertical supranuclear gaze palsy (VSGP) is a key clinical feature in patients with Niemann-Pick type C disease (NP-C), a rare, autosomal recessive, neuro-visceral disorder caused by mutations in either the NPC1 or NPC2 gene.
Zee DS +4 more
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Pfrieger's Digest Niemann-Pick Type C Disease Issue 2; April 2020 - July 2020
, 2020 Summaries of latest research advances related to Niemann-Pick type C disease based on selected peer-reviewed publications in scientific journals. Revised version.Summaries of latest research advances related to Niemann-Pick type C disease based on ...
Pfrieger, Frank W
core +1 more source
Pfrieger's Digest Niemann-Pick Type C Disease Issue 3; August 2020 - October 2020
, 2020 Summaries of latest research advances related to Niemann-Pick type C disease based on selected peer-reviewed publications in scientific journals. Revised version.Summaries of latest research advances related to Niemann-Pick type C disease based on ...
Pfrieger, Frank W
core +1 more source
Pfrieger's Digest Niemann-Pick Type C Disease Issue 5; March - August 2021
, 2021 Summaries of latest research advances related to Niemann-Pick type C disease based on selected peer-reviewed publications in scientific journals. Revised version.Summaries of latest research advances related to Niemann-Pick type C disease based on ...
Pfrieger, Frank W
core