Results 91 to 100 of about 12,631 (179)

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. [PDF]

Orphanet J Rare Dis
Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Datar C, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Prabha CR, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia-Mahay S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Kabra M, Jalan A, Solanki D, Dalal A, Sheth F, Sheth H.   +37 more
europepmc   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study. [PDF]

Orphanet J Rare Dis
Khoshakhlagh M, Hasanpour M, Iranshahi M, Asili J, Tasbandi A, Jamialahmadi T, Sahebkar A, Iranshahy M.   +7 more
europepmc   +1 more source

[Niemann-Pick disease with two missense mutations in SMPD1 gene: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wei Y, Guo H, Xu JN, Chen YY, Shi HX.
europepmc   +1 more source

Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease

Family Medicine & Primary Care Review
Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk   +2 more
doaj   +1 more source

Sphingolipid metabolism and hematologic disorders: current understanding and future directions. [PDF]

Front Physiol
Kuang Z, Huang T, Chen G.
europepmc   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

A suspicion index tool to aid the diagnosis and treatment of ASMD. [PDF]

Orphanet J Rare Dis
Wiesinger AM, Zimmermann G, Lauth W, Muschol N, Möslinger D, Konstantopoulou V, Scholl-Bürgi S, Karall D, Giugliani R, Mengel E, Aigner E, Weghuber D, Lagler FB.   +12 more
europepmc   +1 more source

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source