Results 91 to 100 of about 5,268,641 (220)

Hepatic and Pulmonary Involvement in an Adult Female Affected by Type B Niemann-Pick Disease

Eurasian Journal of Medicine, 2019
We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms.
Fatih Albayrak, Rahsan Yıldırım, Hakan Dursun, Fuat Erdem, Sare Altaş, Abdullah Uyanık, Mustafa Keleş   +6 more
doaj  

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. 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, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Subcortical volumetric reductions in adult niemann-pick disease type C: A cross-sectional study

, 2013
Subcortical volumetric reductions in adult niemann-pick disease type C: A cross-sectional ...
M Walterfang (13387071), W Kelso (13387050), MC Fahey (9153227), Larry Abel (13056207), H Kluenemann (13479931), P Desmond (9722717), EA Bowman (14464509), B Patenaude (13479928), D Velakoulis (10456577)   +8 more
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  

Pfrieger's Digest Niemann-Pick Diseases Issue 8; October 2022-March 2023

, 2023
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
core  

Pfrieger's Digest Niemann-Pick Diseases Issue 7; May 2022-September 2022

, 2022
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
core  

Evidence of polyglandular involvement in Niemann-Pick disease type B

, 1987
We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period.
MARIANO A, FRANZESE, ADRIANA, ANDRIA G., STRISCIUGLIO, PIETRO, PARENTI, GIANCARLO, DI MAIO S, LUBRANO P   +6 more
core   +1 more source

Eye Movements in Niemann Pick C Disease

, 2008
Many neurodegenerative diseases have characteristic eye movement abnormalities, including Niemann Pick C, Gaucher disease type 3, and PSP Since eye movements are easily quantifiable, could they serve as a measure of disease progression and help to ...
Edmond FitzGibbon
core  

'The role of ferroptosis in Niemann-Pick disease'

openLa malattia di Niemann-Pick di tipo C (NPCD) è una malattia genetica rara appartenente al gruppo di malattie da accumulo lisosomiale. Questa patologia è principalmente causata dalla mutazione del gene npc1 che codifica per una proteina della ...
MAIORINO, SOFIA
core  

SACCADIC EYE MOVEMENT CHARACTERISTICS IN ADULT NIEMANN-PICK TYPE C DISEASE: RELATIONSHIPS WITH DISEASE SEVERITY AND BRAIN STRUCTURAL MEASURES

, 2012
SACCADIC EYE MOVEMENT CHARACTERISTICS IN ADULT NIEMANN-PICK TYPE C DISEASE: RELATIONSHIPS WITH DISEASE SEVERITY AND BRAIN STRUCTURAL ...
Matthew Macfarlane (15917273), Jeffrey Looi (15917276), Elizabeth Bowman (11675579), Patricia Desmond (296519), Mark Walterfang (296530), Dennis Velakoulis (296515), Chris Adamson (6296732), Larry Abel (13056207), Michael Fahey (5581379)   +8 more
core