Results 141 to 150 of about 2,350,820 (217)

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis. [PDF]

Mol Genet Metab
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tayebi N, Dickson PI, Porter FD, Ory DS, Jiang X.   +14 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall. [PDF]

Ann Clin Transl Neurol
Makrygianni M, Pagan C, Citterio-Quentin A, Rouvet I, Dingeo G, Hanin C, Laurent-Levinson C, Pichard S, Héron B, Gourguechon C, Mandia D, Guitton J, Lacout C, Schleinitz N, Potier F, Flabeau O, Besse-Pinot E, Lamari F, Pettazzoni M, Nadjar Y.   +19 more
europepmc   +1 more source

ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the <i>NPC1</i> Gene. [PDF]

Genes (Basel)
Monteiro B, Peixoto MI, Ortigoza-Escobar JD, Alves M, Sandiares AC, Gonçalves M, Moreira LV, Coutinho MF, Matos L, Alves S, Encarnação M.   +10 more
europepmc   +1 more source

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil. [PDF]

Cerebellum
Aschoff CAM, Silva TO, Hasan A, Migliorini E, Donis KC, Rare Genomes Project Consortium, Pellerin D, Saraiva-Pereira ML, Leistner S, Poswar F, Giugliani R, Netto CBO, Ashton-Prolla P, Saute JAM, Jardim LB.   +14 more
europepmc   +1 more source

Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency-results from an international survey study. [PDF]

Orphanet J Rare Dis
Morsy AS, Mbua S, Mathieson T, Hopkin J, Bolton S.   +4 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Effects of lipid-lowering drugs on epilepsy and its subtypes: A drug-target Mendelian randomization study. [PDF]

Medicine (Baltimore)
Wang Y, Huang S.
europepmc   +1 more source

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives. [PDF]

Cerebellum
Abid M, Akhtar S, Amjad H, Farooqui SK, Naz T, Shakil S, Alghzawi HM, Hafeez A, Vossenkaul A, Brechbuehl C, Bremova-Ertl T.   +10 more
europepmc   +1 more source

Lipids, lipid-modifying drug targets with venous thromboembolism: a mendelian randomization study. [PDF]

Clinics (Sao Paulo)
Nie L, Han Y, Zheng F.
europepmc   +1 more source