Results 151 to 160 of about 2,350,820 (217)

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease. [PDF]

Front Cell Dev Biol
Hasan A, Morita T, Hirosawa M, Kitamura N, Murakami R, Mikuni M, Kobayashi D, Itabashi T, Miyamoto T.   +8 more
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

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

Special Issue "The Role of Lipids in Health and Diseases". [PDF]

Int J Mol Sci
Wang Y.
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

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

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

Niemann--Pick's disease.

Indian pediatrics, 1970
C M, Mahajan, H J, Singh
openaire   +1 more source

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Niemann-Pick disease

Pathology - Research and Practice, 1989
Results of the investigation carried out during this decade brought unambigous evidence of biochemical heterogeneity inside the complex of Niemann-Pick disease according to which two entirely different metabolic disorders can be recognized. 1. Niemann-Pick sphingomyelinosis, a clear-cut enzymopathy, the pivotal lesion of which is the deficiency of ...
Jacob Valk, Marjo S. van der Knaap
openaire   +3 more sources