Results 131 to 140 of about 784,273 (205)

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series. [PDF]

Front Med (Lausanne)
Karanfilovski V, Nikolov IG, Dzekova Vidimliski P, Balkanov SK, Severova G, Stojanoska A, Gjorgjievski N.   +6 more
europepmc   +1 more source

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches. [PDF]

Int J Mol Sci
Sharshakova A, Fattakhova A, Solovyeva V, Sufianov A, Sufianova G, Kutovoi G, Rizvanov A.   +6 more
europepmc   +1 more source

Development and Validation of a Quantitative LC-MS/MS Method for Measuring CYP4V2 Enzyme Activity via 12-Hydroxylauric Acid in rAAV-hCYP4V2 Gene Therapy Products. [PDF]

Molecules
Ren G, Qin X, Li Y, Fan W, Luo W, Cao Y, Wang Y, Zhou Y, Liang C.   +8 more
europepmc   +1 more source

Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.

Blood, 2017
Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ.   +15 more
europepmc   +1 more source

Advances in Therapeutic Options for Pulmonary and Sleep Disorders in Mucopolysaccharidosis (MPS) Patients: A Narrative Review. [PDF]

Adv Respir Med
Akpa B.
europepmc   +1 more source

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source

Efficacy and safety of pharmacological and biological therapies for amyotrophic lateral sclerosis: a network meta-analysis. [PDF]

Front Neurol
Zhou S, Li X, Jiao Y, Wu J.
europepmc   +1 more source

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report. [PDF]

Mol Genet Metab Rep
Vitturi N, Gugelmo G, Zanini F, Carraro G, Lenzini L, Leonardi A.   +5 more
europepmc   +1 more source

INTESTINAL MANIFESTATIONS OF FABRY’S DISEASE ARE VERY SENSITIVE TO THE ENZYME REPLACEMENT THERAPY: A CASE REPORT

, 2003
G. Carraro, F. Marchini, C. Cascone, G. Gambaro, A. Naso, D'ANGELO, ANGELA, F. Nalesso   +6 more
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