Results 101 to 110 of about 32,945 (208)

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

Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature. [PDF]

J Infect Dis
Wang C, Filippov E, Seyedmousavi A, Kleiner DE, Rai A, Heller T, Dias AL, Gonzalez CE, Arnold DE, Dimitrova D, Malech HL, Pai SY, Notarangelo LD, Holland SM, Uzel G, Cuellar-Rodriguez J, Freeman AF, Czech MM.   +17 more
europepmc   +1 more source

An update on inborn errors of V(D)J recombination. [PDF]

Physiology (Bethesda)
Schim van der Loeff I, Ahuja M, Chen R, Patane E, Hambleton S.   +4 more
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 more
europepmc   +1 more source

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

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

Inborn errors [PDF]

Bone Marrow Transplantation, 2001
openaire   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source

Inborn errors of immunity at school: How can we do better? [PDF]

J Hum Immun
Lopez-Seguer L, Rodriguez-Tello S, Gonzalez-Amores M, Martin-Nalda A, Zelada S, Ridao Manonellas S, Galindo-Maycas S, Villar C, Riviere JG, Soler-Palacin P.   +9 more
europepmc   +1 more source

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 more
europepmc   +1 more source

Inborn Errors [PDF]

Bone Marrow Transplantation, 1999
openaire   +1 more source