Results 161 to 170 of about 62,038 (258)

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry [PDF]

, 2003
Bridget Wilcken, Veronica Wiley, Judith Hammond, Kevin Carpenter   +3 more
openalex   +1 more source

Immunoglobulin G Trough Levels and Infection Risk in Adults with Inborn Errors of Immunity Receiving Immunoglobulin Therapy. [PDF]

Medicina (Kaunas)
Aktaş ÖÖ, Özer NO, Kaplankıran C, Akın BG, Ozturk BO, Durmaz MSB, Kalkan F, Soyyiğit Ş.   +7 more
europepmc   +1 more source

Metabolic engineering as therapy for inborn errors of metabolism – development of mice with phenylalanine hydroxylase expression in muscle

, 1998
CO Harding, Krzysztof Wild, David Chang, Albee Messing, JA Wolff   +4 more
openalex   +1 more source

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism [PDF]

, 2003
Carmen Stromberger, Olaf A. Bodamer, Sylvia Stöckler‐Ipsiroglu   +2 more
openalex   +1 more source

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity. [PDF]

Front Immunol
Nishimura M, Tomomasa D, Suzuki R, Miyaoka F, Kanegane H.   +4 more
europepmc   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

Autoimmune manifestations in children with inborn errors of immunity in Morocco: A study from the national registry. [PDF]

J Transl Autoimmun
Elamine A, Benhsaien I, Ailal F, Errami A, Kasmi Z, Aadam Z, Bourhanbour AD, Bousfiha AA, El Bakkouri J.   +8 more
europepmc   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Molecular diagnosis and inborn errors of metabolism: A practitioner’s view

, 2000
Stephen D. Cederbaum
openalex   +1 more source

Inborn errors of immunity (primary immunodeficiencies). [PDF]

Allergy Asthma Clin Immunol
Kim VHD, Upton JEM, Derfalvi B, Hildebrand KJ, McCusker C.   +4 more
europepmc   +1 more source