Results 101 to 110 of about 64,666 (262)

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Fetal neurosonographic phenotyping of inborn errors of metabolism

, 2023
Isabella Y. M. Wah, Chun Yiu Law
openalex   +1 more source

The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity

, 2020
Bertrand Boisson
openalex   +2 more sources

Insights into mucosal associated invariant T cell biology from human inborn errors of immunity [PDF]

, 2022
Lauren J. Howson, Vanessa L. Bryant
openalex   +1 more source

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview [PDF]

Silvia Federici, Bianca Laura Cinicola, Francesco La Torre, Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Roberta Caorsi, Lucia Leonardi, S Corrente, Annarosa Soresina, Caterina Cancrini, Antonella Insalaco, Marco Gattorno, Fabrizio De Benedetti, Gian Luigi Marseglia, Michele Miraglia del Giudice, Fabio Cardinale   +17 more
openalex   +1 more source

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group [PDF]

, 2018
Simon Bomken, Jutte van der Werff ten Bosch, Andishe Attarbaschi, Chris M. Bacon, Arndt Borkhardt, Kaan Boztuǧ, Ute Fischer, Fabian Hauck, Roland P. Kuiper, Tim Lammens, Jan Loeffen, Bénédicte Neven, Qiang Pan‐Hammarström, Isabella Quinti, Markus G. Seidel, Klaus Warnatz, Claudia Wehr, Arjan C. Lankester, Andrew R. Gennery   +18 more
openalex   +1 more source

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

Inborn errors of immunity with susceptibility to S. aureus infections [PDF]

Hannah Kurz, Kai Lehmberg, Susan Farmand
openalex   +1 more source

Thrombocytopenia in patients with inborn errors of immunity. [PDF]

BMC Immunol
Fekrvand S, Mohtashami M, Sanadgol N, Salehi H, Fard NNG, Afkham EK, Chavoshzadeh Z, Parvaneh N, Mahdaviani SA, Sharafian S, Barzamini S, Ahanchian H, Kalantari A, Shafiei A, Tavakol M, Abolnezhadian F, Rad MK, Hassanpour G, Cheraghi T, Farid AS, Delavari S, Abolhassani H, Rezaei N, Yazdani R.   +23 more
europepmc   +1 more source

Rheumatological manifestations in inborn errors of immunity [PDF]

, 2019
Sevgi Köstel Bal, Júlia Pázmándi, Kaan Boztuǧ, Seza Özen   +3 more
openalex   +1 more source