Results 151 to 160 of about 13,220 (172)

Creatine Transporter Deficiency

2012
openaire   +1 more source

Vitamin B12 deficiency

Nature Reviews Disease Primers, 2017
Ralph Green, Lindsay H Allen, Anne-Lise Bjørke-Monsen   +2 more
exaly  

Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial

Lancet, The, 2015
Kenneth R Chapman, Robert A Sandhaus, Berend C Stoel   +2 more
exaly  

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

Lancet, The, 2023
exaly  

α1-Antitrypsin deficiency

Nature Reviews Disease Primers, 2016
Catherine M Greene, Stefan J Marciniak, Jeffrey H Teckman   +2 more
exaly  

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Nature, 2006
stefan Feske, Murali Prakriya, Sonal Srikanth   +2 more
exaly  

α1-antitrypsin deficiency

Lancet, The, 2005
James K Stoller, Loutfi S Aboussouan
exaly  

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

Journal of Inherited Metabolic Disease, 2012
van de Kamp, J.M., Jakobs, C.A.J.M., Gibson, K.M., Salomons, G.S.   +3 more
openaire   +4 more sources

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

New England Journal of Medicine, 2015
Dung T Le, Bjarne R Bartlett, Holly Kemberling   +2 more
exaly  

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Lancet, The, 2015
Bernd C Schwahn, Francjan J Van Spronsen, Abdel Ali Belaidi   +2 more
exaly