Results 121 to 130 of about 62,038 (258)

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]

J Inherit Metab Dis
Clayton PT, Hirachan R, Murphy E.
europepmc   +1 more source

Selective screening for inborn errors of metabolism-past, present and future [PDF]

, 1994
Gustav Hoffmann
openalex   +1 more source

Endocrine Disorders in Patients With Inborn Errors of Immunity. [PDF]

J Korean Med Sci
Noh ES, Kim DR, Im M, Kim I, Sung J, Ahn YJ, Shin A, Kim KR, Park H, Kim G, Jin SM, Hur KY, Kim J, Ahn K, Yoo KH, Cho SY, Kim YJ.   +16 more
europepmc   +1 more source

Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]

, 1992
Michaël Fayon
openalex   +1 more source

Interferons in human inborn errors of disease. [PDF]

mBio
Stine L, Cahill S, Humphries F.
europepmc   +1 more source

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry [PDF]

, 1995
Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall, Douglas Little   +3 more
openalex   +1 more source

Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study. [PDF]

J Clin Immunol
Gumusburun R, Yıldırım O, Karakoc M, Okan K, Inan S, Dalgıc CT, Akten HS, Bogatekin G, Bulut G, Demir M, Aytac H, Camyar A, Ozısık M, Demir D, Soyer N, Soylu M, Uysal FE, Aykut A, Durmaz A, Ozgul S, Sin AZ, Ardeniz O.   +21 more
europepmc   +1 more source

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters. [PDF]

BMC Immunol
Sağun F, Çölkesen F, Gerek ME, Savaş ŞA, Kolak S, Harman E, Arslan Ş.   +6 more
europepmc   +1 more source

Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis [PDF]

, 1997
Sylvia Stöckler, Bart Marescau, P.R. De Deyn, J.M.F. Trijbels, F. Hanefeld   +4 more
openalex   +1 more source

γδ T Cells and Inborn Errors of Immunity. [PDF]

Eur J Immunol
Sagar, Ehl S.
europepmc   +1 more source