Results 111 to 120 of about 52,054 (406)

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper, Alper Ca, Con, Folkman, Greene, Greene, Kashiwagi, Kashiwagi, Merrill, Nordlie, Raum, Starzl, Starzl, Starzl, Starzl, Starzl   +15 more
core   +1 more source

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell‐Targeted Therapies

Arthritis &Rheumatology, Accepted Article.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no FDA‐approved disease‐modifying therapies for SjD.
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Substrate reduction therapy for inborn errors of metabolism

Emerging Topics in Life Sciences, 2019
Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block.
W. Yue, S. Mackinnon, G. A. Bezerra
semanticscholar   +1 more source

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Human Mutation, 2018
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.
Diane B. Zastrow, H. Baudet, W. Shen, Amanda Thomas, Y. Si, Meredith A. Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, S. Dwight, M. W. Wright, S. Dobrowolski, K. Eilbeck, G. Enns, A. Feigenbaum, U. Lichter-Konecki, E. Lyon, M. Pasquali, M. Watson, N. Blau, R. Steiner, W. Craigen, R. Mao   +22 more
semanticscholar   +1 more source

Is susceptibility to severe COVID‐19 disease an inborn error of metabolism? [PDF]

, 2020
Peter T. Clayton
openalex   +1 more source

Amino Acids and Acylcarnitines Reference Values for Neonatal Screening of Inborn Errors of Metabolism in Colombia by Tandem Mass Spectrometry [PDF]

, 2021
Antonio Bermúdez, Dora Robayo, Gloria L. Porras, Marı́a Amparo Acosta   +3 more
openalex   +1 more source

Pharmacokinetics of teicoplanin in paediatric patients—A systematic review of current literature

British Journal of Clinical Pharmacology, EarlyView.
Background and Objective Teicoplanin is commonly used in children to treat gram‐positive infections and is sometimes used off‐label prophylactically in surgical or paediatric oncology settings. The pharmacokinetics (PK) of teicoplanin in children exhibit considerable variability, such as in critically ill children or those with renal impairment.
Noa E. Wijnen, Daan J. Touw, Kim Klein, Gertjan J. L. Kaspers, Paola Mian   +4 more
wiley   +1 more source

Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib

British Journal of Clinical Pharmacology, EarlyView.
Aim Small‐molecule activin receptor‐like kinase‐2 inhibitor zilurgisertib (INCB000928) is under investigation in a pivotal trial for the treatment of fibrodysplasia ossificans progressiva (FOP), an ultrarare genetic condition. This analysis assessed effects of renal and hepatic impairment on zilurgisertib pharmacokinetics.
Yan‐ou Yang, Yunlan Fang, Phillip Wang, Xiang Liu, Jay Getsy, Kevin Rockich   +5 more
wiley   +1 more source

Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.

Annals of Translational Medicine, 2018
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways.
M. Mussap, M. Zaffanello, V. Fanos
semanticscholar   +1 more source

Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls [PDF]

, 2020
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Ed H. Jacobs, Esmée Oussoren, Ans T. van der Ploeg, Margreet A.E.M. Wagenmakers, Robert M.W. Hofstra, Henk J. Blom, Marcel J.T. Reinders, George J. G. Ruijter   +10 more
openalex   +1 more source