Results 61 to 70 of about 15,664 (135)

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports, 2015
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang   +9 more
doaj   +1 more source

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

Turkish Journal of Hematology, 2011
Serap Karaman, Tiraje Celkan
doaj   +3 more sources

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

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  

Bone marrow involvement of a patient with Niemann-Pick disease concomitant with Kartagener’s syndrome: Report of a rare case

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Niemann-Pick disease is a rare lipid storage disorder with autosomal recessive inheritance, which is characterized by accumulation of sphingomyelin and other sphingolipids in macrophages. In most cases, macrophage lipids show a non-spesific, ?ntense blue
Muzaffer Keklik, serdar sivgin, suleyman baldane, afra yildirim, olgun kontas, fatih kardas, cigdem pala, ali unal   +7 more
doaj  

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

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

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice. [PDF]

Life Sci Alliance
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +1 more source