Results 11 to 20 of about 133,872 (296)

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

Turkish Archives of Pediatrics, 2021
Background: Mucopolysaccharidoses are extremely rare, progressive, often severe multi-system disorders, some of which are managed by weekly intravenous enzyme replacement therapy.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, H. Serap Sivri   +3 more
core   +4 more sources

EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES

Педиатрическая фармакология, 2014
The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina, G. B. Movsisyan, L. S. Namazova-Baranova   +2 more
doaj   +2 more sources

Enzyme Replacement Therapy in a Gaucher Family

Journal of the National Medical Association, 2018
Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and
Aydogdu I., Berber I., Buran T., Erdem N.   +3 more
core   +4 more sources

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

Drug Design, Development and Therapy, 2016
Ozlem Goker-Alpan,1 Nicola Longo,2 Marie McDonald,3 Suma P Shankar,4,5 Raphael Schiffmann,6 Peter Chang,7 Yinghua Shen,7 Arian Pano7 1Lysosomal Disorders Unit, Fairfax, VA, 2University of Utah, Salt Lake City, UT, 3Department of Pediatrics, Duke ...
Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A   +7 more
doaj   +1 more source

Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy [PDF]

РМЖ. Мать и дитя, 2022
N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation ...
N.A. Polyanskaya, A.A. Gorbunova, E.B. Pavlinova, O.A. Savchenko, I.A. Kirshina, M.E. Bagaeva, T.V. Strokova   +6 more
doaj   +1 more source

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage [PDF]

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 more
doaj   +2 more sources

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome

Drug Design, Development and Therapy, 2015
Shunji Tomatsu,1,2 Kazuki Sawamoto,1 Carlos J Alméciga-Díaz,3 Tsutomu Shimada,1 Michael B Bober,1 Yasutsugu Chinen,4 Hiromasa Yabe,5 Adriana M Montaño,6 Roberto Giugliani,7 Francyne Kubaski,1,8 Eriko ...
Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T   +17 more
doaj   +1 more source

Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine

Pharmaceutics, 2023
This review presents current updates of pancreatic enzyme replacement therapy in children with cystic fibrosis based on literature published in the last decade and some special considerations regarding pancreatic enzyme replacement therapy in the era of ...
Mirela-Elena Ritivoiu, Cristina Manuela Drăgoi, Dumitru Matei, Iustina Violeta Stan, Alina Crenguţa Nicolae, Mihai Craiu, Ion-Bogdan Dumitrescu, Alina Angelica Ciolpan   +7 more
doaj   +1 more source

Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy

Frontiers in Pediatrics, 2022
Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The
Ying Li, Deyun Liu, Yue Yu
doaj   +1 more source

Enzyme Replacement Therapy In Hypophosphatasia

Journal of the College of Physicians and Surgeons Pakistan, 2018
Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP.
S. Ahmet, Uçaktürk, Selin, Elmaogullari, Sevim, Ünal, Deniz, Gönülal, Eda, Mengen   +4 more
openaire   +5 more sources