Results 161 to 170 of about 122,438 (258)

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

, 2019
Hanneke A. Haijes, Maria van der Ham, Johan Gerrits, Peter M. van Hasselt, Hubertus C.M.T. Prinsen, Monique G.M. de Sain–van der Velden, Nanda M. Verhoeven‐Duif, Judith Jans   +7 more
openalex   +2 more sources

Metabolic studies following orthotopic liver transplantation [PDF]

, 1971
Starzl, TE
core  

Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025). [PDF]

Orphanet J Rare Dis
Wu Q, Gao J, Yuan Y, Yang H, Fu Q.
europepmc   +1 more source

Inborn error of metabolism screening in neonates

, 2019
Preeti Sharma, Pradeep Kumar, Rachna Sharma, K Mahapatra, Gaurav Gupta   +4 more
openalex   +1 more source

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
europepmc   +1 more source

Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

Chavoshzadeh, Zahra, Fallah, Shahrzad, Zeinali, Vahide, Sharafian, Samin, Delavari, Samaneh, Mesdaghi, Mehrnaz, Djidjik, Reda, Belaid, Brahim, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Genel, Ferah, Gulez, Nesrin, Baris, Safa, Ozen, Ahmet, Elif, Karakoc-aydiner, Kiykim, Ayça, Meric, Zeynep, Kutukculer, Necil, Aygun, Ayse, Aksu, Guzide, Karaca, Neslihan Edeer, Geyik, Mehmet, Keles, Sevgi, Reisli, Ismail, Nail Guner, Sukru, Boukari, Rachida, Hakem, Saliha, Belbouab, Reda, Barbouche, Mohamed-Ridha, et al   +30 more
openalex   +1 more source

Building alliances for early detection of immunodeficiencies: from primary care to hematology. [PDF]

Front Immunol
Rivière JG, Pasquet M, Gambineri E.
europepmc   +1 more source

Portal diversion for inborn errors of metabolism: With special reference to glycogen storage disease, Type II hyperlipidemia, and juvenile Gaucher's disease [PDF]

, 1978
Putnam, CW, Starzl, TE
core  

Gastroenterological disorders in inborn errors of immunity. Part 1. Epidemiology, classification, symptoms, diagnosis, and treatment. [PDF]

Prz Gastroenterol
Napiórkowska-Baran K, Treichel P, Koperska K, Kudrej O, Mućka N, Rajewska A, Wawrzeńczyk A, Bartuzi Z.   +7 more
europepmc   +1 more source

Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity. [PDF]

Front Pediatr
Abinun M, Owens S.
europepmc   +1 more source