Results 81 to 90 of about 28,047,610 (162)
Journal of Lipid Research, 2011 Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mutations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend +3 more
doaj +1 more source
Miglustat in Niemann-Pick disease type c (NPC)
, 2008 Miglustat in Niemann-Pick disease type c ...
Ed Wraith (15917000) +4 more
core +1 more source
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
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
core +1 more source
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
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
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
Pfrieger's Digest Niemann-Pick Type C Disease Issue 6; September 2021 - April 2022
, 2022 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