Results 51 to 60 of about 9,431 (199)

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, EarlyView.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, EarlyView.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future [PDF]

, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
core  

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome) [PDF]

, 2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome)
Rigante, D
core  

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

The role of transferrin receptors in crossing the blood-brain barrier in the treatment of mucopolysaccharidosis

Лечащий Врач
Background. Currently, in Russia, intravenous enzyme replacement therapy is used for the treatment of mucopolysaccharidosis type II. In recent months, enzyme replacement therapy administered via the cerebral ventricles (intracerebroventricular ...
Larisa I. Minaycheva, Gulnara N. Seitova, Ekaterina A. Shatokhina   +2 more
doaj   +1 more source

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia

Case Reports in Surgery, 2017
Background. Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation. A 16-year-old male patient underwent
Yasuhiro Chikaishi, Kenichi Kobayashi, Shuichi Shinohara, Akihiro Taira, Yusuke Nabe, Shinji Shinohara, Taiji Kuwata, Masaru Takenaka, Soichi Oka, Ayako Hirai, Kazue Yoneda, Koji Kuroda, Naoko Imanishi, Yoshinobu Ichiki, Fumihiro Tanaka   +14 more
doaj   +1 more source

Avaliação da motricidade orofacial em pacientes com mucopolissacaridose: um estudo transversal Evaluation of orofacial motricity in patients with mucopolysaccharidosis: a cross-sectional study

Jornal de Pediatria, 2009
OBJETIVO: Caracterizar o sistema estomatognático e as funções estomatognáticas de pacientes com mucopolissacaridose. MÉTODOS: Estudo transversal e observacional de pacientes com mucopolissacaridose atendidos no ambulatório do Serviço de Genética Médica ...
Giovana S. Turra, Ida Vanessa D. Schwartz   +1 more
doaj   +1 more source

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

International Journal of Neonatal Screening, 2020
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, progressive multisystemic lysosomal storage disorder with significant morbidity and premature mortality.
Barbara K. Burton, Rachel Hickey, Lauren Hitchins   +2 more
doaj   +1 more source