Results 111 to 120 of about 532,411 (388)

LDAcoop: Integrating non‐linear population dynamics into the analysis of clonogenic growth in vitro

Molecular Oncology, EarlyView.
Limiting dilution assays (LDAs) quantify clonogenic growth by seeding serial dilutions of cells and scoring wells for colony formation. The fraction of negative wells is plotted against cells seeded and analyzed using the non‐linear modeling of LDAcoop.
Nikko Brix, Daniel Samaga, Katharina Gehr, Benedek Dankó, Mohamed Schumann, Guido Drexler, Ahmed Alnatsha, Georg Beyer, Ujjwal Mahajan, Martin Selmansberger, Julia Mayerle, Claus Belka, Horst Zitzelsberger, Kirsten Lauber   +13 more
wiley   +1 more source

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +1 more source

Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy [PDF]

, 2022
Juliano Henrique Borges, Daniela Albiero Camargo, Letícia E. Sewaybricker, Renata Isa Santoro, Daniel Minutti de Oliveira, Sofia Helena Valente de Lemos‐Marini, Bruno Geloneze, Gil Guerra‐Júnior, Ezequiel Moreira Gonçalves   +8 more
openalex   +1 more source

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

OncoTarget, 2017
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A.
F. Scionti, M. T. Di Martino, S. Sestito, A. Nicoletti, F. Falvo, K. Roppa, M. Arbitrio, P. Guzzi, Giuseppe Agapito, A. Pisani, E. Riccio, D. Concolino, L. Pensabene   +12 more
semanticscholar   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Combining antibody conjugates with cytotoxic and immune‐stimulating payloads maximizes anti‐cancer activity

Molecular Oncology, EarlyView.
Methods to improve antibody–drug conjugate (ADC) treatment durability in cancer therapy are needed. We utilized ADCs and immune‐stimulating antibody conjugates (ISACs), which are made from two non‐competitive antibodies, to enhance the entry of toxic payloads into cancer cells and deliver immunostimulatory agents into immune cells.
Tiexin Wang, Dong Jun Koo, Peter M. Tessier, Greg M. Thurber   +3 more
wiley   +1 more source

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas.
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel   +7 more
doaj  

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease.

Journal of the American Society of Nephrology, 2018
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of the α-galactosidase A gene. The lysosomal enzyme α -galactosidase A (GLA) mediates the hydrolysis of the terminal α -galactosyl moiety from globotriaosylceramide ...
Malte Lenders, E. Brand
semanticscholar   +1 more source

An unusual presentation of neurononopathic gauchers disease. [PDF]

, 2013
A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities.
Chand, Prem, Habib, Bushra, Ibrahim, Shahnaz, jan, Farida   +3 more
core   +1 more source

Xenobiotic metabolism: the effect of acute kidney injury on non-renal drug clearance and hepatic drug metabolism. [PDF]

, 2014
Acute kidney injury (AKI) is a common complication of critical illness, and evidence is emerging that suggests AKI disrupts the function of other organs.
Abosaif, Andres-Hernando, Andres-Hernando, Barbara Philips, Boucher, Bougle, Brown, Chan, Chawla, Chung, Doi, Dowling, Dreisbach, Dreisbach, English, Fadillioglu, Gardiner, Gertz, Golab, Group, Gurley, Hassoun, Heinemeyer, Heinemeyer, Iain MacPhee, Izuwa, John Dixon, Karim, Katie Lane, Kirwan, Kirwan, Klein, Kramer, Krueger, Kunihara, Kunuzova, Lane, Lash, Leblanc, Lee, Lee, Lohr, Martyn, Mastorakos, Meier-Hellmann, Michaud, Michaud, Miyazawa, Muntane-Relat, Murakami, Naud, Naud, Nicholson, Nolin, Nolin, Okabe, Okabe, Okabe, Owen, O’Shaunessy, Park, Park, Philips, Power, Schneider, Serteser, Shi, Shibata, Smith, Soni, Spapen, Srinivas, Sun, Tanabe, Tian, Venkatesh, Wang, Whelton, Wilkinson, Wilson, Yamaguchi, Yoshitani, Yu   +82 more
core   +2 more sources