Results 71 to 80 of about 14,662 (177)

A case of Niemann-Pick disease type A

Korean Journal of Pediatrics, 2006
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent ...
Ho Yen Yu, Ji Eun Oh, Jae Sun Park, Mi Hyang Kim, Sin Dong Kim, Kyung Soon Jung   +5 more
openaire   +1 more source

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive   +12 more
doaj   +1 more source

Type C Niemann-Pick disease [PDF]

British Journal of Haematology, 2000
Kennedy, G A, Cobcroft, R, Marlton, P, Silburn, P, Walsh, M, Boyle, R   +5 more
openaire   +4 more sources

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

BMC Infectious Diseases
Background Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly.
Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao, Huaipeng Huang   +9 more
doaj   +1 more source

Niemann-Pick type III and Crohn's Disease [PDF]

Journal of the Royal Society of Medicine, 1983
D S, Jolliffe, I, Sarkany
openaire   +2 more sources

Niemann-Pick disease type A [PDF]

, 2020
openaire   +3 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  

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

Molecular Genetics and Metabolism Reports
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in ...
Amber Van Baelen, Stijn Verhulst, François Eyskens   +2 more
doaj   +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

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