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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  

NIEMANN-PICK DISEASE

Medicine, 1958
A C, CROCKER, S, FARBER
openaire   +2 more sources

Lipidosis with sea-blue histiocytes. Report of two siblings with lung involvement

The Turkish Journal of Pediatrics, 1994
Two siblings, an eight-year-old girl and a three-year-old boy with lipid storage disease, most likely non-neuropathic Niemann-Pick disease (NPD) with sea-blue histiocytes, are presented.
S Göğüş, A Göçmen, N Koçak, N Kiper, T Küçükali, A Yüce, N Büyükpamukçu   +6 more
doaj  

Lack of cathepsin B increases severity in Niemann-Pick disease, type C1 mice. [PDF]

Neurosci Lett
Luke R, Cawley NX, Porter FD.
europepmc   +1 more source

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +1 more source

Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report. [PDF]

Medicine (Baltimore)
Xiang S, Hua D, Zhang L, Sun L, Yang W, Wang H.   +5 more
europepmc   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

J Inherit Metab Dis
Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.   +33 more
europepmc   +1 more source

From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C. [PDF]

Cureus
Carvalho de Sousa L, Gomes Pereira C, Magalhães C.   +2 more
europepmc   +1 more source

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study. [PDF]

Orphanet J Rare Dis
Solomon BI, Munoz AM, Borruso A, Sinaii N, Farhat N, Alexander D, Labor DA, Do AD, Porter FD.   +8 more
europepmc   +1 more source

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice. [PDF]

Mol Genet Metab Rep
Cougnoux A, Alvarez CS, Maria AG, Hernandez E, Cawley NX, Davidson CD, Porter FD.   +6 more
europepmc   +1 more source