Results 331 to 340 of about 145,125 (343)

The Aetiology of Elevated Total Serum Immunoglobulin E in Children. [PDF]

Acta Paediatr
Ärölä A, Kukkonen K, Vakkilainen S.
europepmc   +1 more source

EARLY PRENATAL DIAGNOSTICS OF INBORN HEART DISEASES OF FETUSES WITH NUCHAL TRANSLUCENCY

, 2008
E.A. Shevchenko
openalex   +1 more source

Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant. [PDF]

Clin Case Rep
Alshami Y, Hroub O, Hroub M, Abouodeh S, Makhamre Z, Hammouri AG, Alzatari I, Atawneh O.   +7 more
europepmc   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. [PDF]

JIMD Rep
Crenshaw MM, Midgette Y, Mohan S, Wei R, Anneling M, Williams M, Patel M, Cocanougher BT, Young SP, Niyazov D, El-Gharbawy A, Stiles AR.   +11 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies

Abdul L. Shakerdi, Darragh Nerney, Eleanor J. Molloy, Ina Knerr   +3 more
openalex   +2 more sources

Clinical Images: Biopsy‐proven hydroxychloroquine‐induced cardiomyopathy in an adolescent with systemic lupus erythematosus

Arthritis &Rheumatology, EarlyView.
Greta Mastrangelo, Deborah M. Levy, Anita Nagy, Aamir Jeewa   +3 more
wiley   +1 more source

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Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee

Journal of Human Immunity
Here we provide a comprehensive update to the classification of monogenic immune disorders.
M. Poli, Ivona Aksentijevich, A. Bousfiha, C. Cunningham-Rundles, Sophie Hambleton, Christoph Klein, Tomohiro Morio, Capucine Picard, Anne Puel, Nima Rezaei, Mikko R. J. Seppänen, R. Somech, H. Su, Kathleen E. Sullivan, Troy R. Torgerson, Isabelle Meyts, S. Tangye   +16 more
semanticscholar   +1 more source

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Journal of Clinical Immunology, 2022
A. Bousfiha, Abderrahmane Moundir, S. Tangye, C. Picard, L. Jeddane, W. Al-Herz, C. C. Rundles, J. Franco, S. Holland, C. Klein, T. Morio, É. Oksenhendler, A. Puel, J. Puck, M. Seppänen, R. Somech, H. Su, K. Sullivan, T. Torgerson, I. Meyts   +19 more
semanticscholar   +1 more source

Inborn Errors of Immunity and Autoimmune Disease.

Journal of Allergy and Clinical Immunology: In Practice, 2023
P. Gray, C. David
semanticscholar   +1 more source