Results 141 to 150 of about 122,438 (258)

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study. [PDF]

Orphanet J Rare Dis
Anh PNL, Tuan NM, Cuc CTT, Khanh LTX, Thach PNQ, Hung NT, Minh NNQ, Bao BC, Nghia H, Vu HA, Xinh PT.   +10 more
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries

, 2023
John Ibhagbemien Anetor, Bose Etaniamhe Orimadegun, Gloria Oiyahumen Anetor   +2 more
openalex   +2 more sources

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Editorial: Newborn screening for inborn errors of metabolism volume II. [PDF]

Front Pediatr
Elmonem MA, van den Heuvel LP.
europepmc   +1 more source

Liver transplantation [PDF]

, 1983
Koep, LJ, Starzl, TE
core  

Inborn errors [PDF]

Bone Marrow Transplantation, 2000
openaire   +3 more sources

Experiences from inborn errors of immunity registry of India: A preliminary report. [PDF]

Indian J Med Res
Yadav RM, Suri D, Singh S, Pandiarajan V, Satheesh C, Ranganath P, Gulati R, Puri RD, Temkar L, Khalkho P, Almas, Rajasekhar L, Raj R, Shukla A, Rawat A, Madkaikar M, NRROID Registry PID Contributors group.   +16 more
europepmc   +1 more source

Neurogenetic and inborn errors of metabolism in pediatrics: A case series highlighting phenotypic diversity and treatable presentations [PDF]

Akshay Bhutada, G Yogeshwar, Aniraban Mahanta, Papori Borah, Marami Das, Munindra Goswami   +5 more
openalex   +1 more source

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]

, 1984
Berlit, Peter, Bonjour, Jean-Pierre, Kochen, W., Krause, Klaus-Henning   +3 more
core