Results 221 to 230 of about 17,404,319 (246)

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 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

Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World Study. [PDF]

J Inherit Metab Dis
Uçar SK, Mungan NÖ, Gökçay GF, Zeybek AÇA, Kılavuz S, Güneş S, Kardaş F, Kısa PT, Çıkı K, Yavaş AK, Kahraman AB, Çelik MY, Canda E, Kor D, Karaca M, Zübarioğlu T, Genç E, Yazıcı H, Bulut FD, Kılıç Ş, Aghakıshılı H, Karapınar FE, Burgaç E, Kıykım E, Elek A, Kardaş N, Ünal E, Karapınar TH, Albayrak M, Albayrak C, Ünüvar A, Wortmann SB, Karapınar DY.   +32 more
europepmc   +1 more source

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients. [PDF]

J Transl Med
Damiano C, Tarallo A, Strollo S, Minopoli N, Valanzano A, Assunto A, Tuzzi MR, Brunetti-Pierri N, Ballabio A, Sorrentino NC, Parenti G.   +10 more
europepmc   +1 more source

Cardiac magnetic resonance in Pompe disease: a systematic literature review. [PDF]

Radiol Med
Lupi A, Schiavone E, Gragnaniello V, Cervaro S, Crimì F, Quaia E, Burlina A, Pepe A.   +7 more
europepmc   +1 more source

Consensus guidelines for management of glycogen storage disease type 1b – European Study on Glycogen Storage Disease Type 1

European Journal of Pediatrics, 2002
Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each
G Peter A Smit, Jan Peter Rake
exaly   +2 more sources

Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is
G Peter A Smit, Jan Peter Rake
exaly   +3 more sources