Results 1 to 10 of about 145,125 (343)

Neuroinflammation Associated With Inborn Errors of Immunity

Frontiers in Immunology, 2022
The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial phenotypic heterogeneity.
Hannes Lindahl, Y. Bryceson
semanticscholar   +1 more source

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Journal of Laboratory Medicine, 2021
Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu   +5 more
doaj   +1 more source

Human inborn errors of immunity: An expanding universe

Science immunology, 2020
This Review summarizes recent advances in the molecular, cellular, and clinical characterization of human inborn errors of immunity. Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of ...
L. Notarangelo, R. Bacchetta, J. Casanova, H. Su   +3 more
semanticscholar   +1 more source

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

Journal of Clinical Immunology, 2021
Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications.
A. Aghamohammadi, N. Rezaei, R. Yazdani, S. Delavari, N. Kutukculer, E. Topyıldız, A. Ozen, S. Barış, E. Karakoc‐Aydiner, S. Kilic, H. Kose, N. Gulez, F. Genel, I. Reisli, K. Djenouhat, Azzeddine Tahiat, R. Boukari, S. Ladj, Réda Belbouab, Y. Ferhani, B. Belaid, R. Djidjik, Nadia Kechout, N. Attal, Khalissa Saidani, R. Barbouche, A. Bousfiha, A. Sobh, Ragheed Rizk, M. Elnagdy, M. Al-Ahmed, S. Al-Tamemi, G. Nasrullayeva, M. Adeli, M. Al-Nesf, Amel Hassen, C. Mehawej, C. Irani, A. Mégarbané, J. Quinn, Zahra Seyed Alireza Mohammamd Marzieh Nasrin Tooba Ghola Chavoshzadeh Mahdaviani Nabavi Tavakol Behniafard , Z. Chavoshzadeh, S. Mahdaviani, M. Nabavi, M. Tavakol, N. Behniafard, Tooba Momen, G. Azizi, M. Bemanian, S. Arshi, Rasol Molatefi, R. Sherkat, A. Shirkani, R. Amin, S. Aleyasin, R. Faridhosseini, F. Jabbari-Azad, H. Ahanchian, M. Khoshkhui, A. Shafiei, A. Kalantari, I. Mohammadzadeh, J. Ghaffari, Taher. - Cheraghi, M. Mansouri, M. Mesdaghi, D. Babaie, M. Eslamian, Abbas Dabbaghzadeh, M. Tavassoli, R. Ghasemi, R. N. Kalmarzi, Seyed Hamidreza Mortazavi, S. Kashef, H. Esmaeilzadeh, Javad Tafaroji, A. Khalili, F. Zandieh, M. Sadeghi-shabestari, S. Darougar, F. Behmanesh, H. Akbari, M. Zandkarimi, F. Abolnezhadian, A. Fayezi, M. Torabizadeh, Mojgan Moghtaderi, H. Soheili, A. Ahmadiafshar, Behzad Shakerian, V. Sajedi, B. Taghvaei, M. Safari, M. Heidarzadeh, B. Ghalebaghi, S. M. Fathi, B. Darabi, Kian Darabi, Saeed Bazregari, N. Bazargan, M. Fallahpour, A. Khayatzadeh, Bahram Bashardoust, H. Sadri, M. Zamani, A. Mohsenzadeh, Sarehsadat Ebrahimi, R. Ghaemi, F. Z. Mehrjerdi, S. Sharafian, S. H. Nabavizadeh, Leila Baniadam, Fereshteh Salari, Mahsa Rekabi, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, A. Pourvali, A. Rezaei, A. Hamidieh, M. Shariat, M. Gharagozlou, M. Movahedi, N. Parvaneh, N. Karaca, G. Aksu, S. B. Eltan, Nurhan Kasap, Burcu Kolukisa, A. Sefer, E. Yalçın, Royala Babayeva, Lydia Lamara Mahammed, Ahmad Al-Khabaz, L. Maródi, V. Modell, F. Modell, W. Al-Herz, R. Geha, Hassan Abolhassani   +138 more
semanticscholar   +1 more source

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France

Orphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction.
Victor Maler, Violette Goetz, Marine Tardieu, Abderrahmane El Khalil, Jean Meidi Alili, Philippe Meunier, François Maillot, François Labarthe   +7 more
doaj   +1 more source

Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

Cellular & Molecular Immunology, 2021
In addition to susceptibility to infections, conventional primary immunodeficiency disorders (PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as lymphoproliferative and/or autoimmune disease.
G. Sogkas, F. Atschekzei, I. R. Adriawan, Natalia Dubrowinskaja, T. Witte, R. Schmidt   +5 more
semanticscholar   +1 more source

Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections

Orphanet Journal of Rare Diseases, 2021
Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone ...
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier   +6 more
doaj   +1 more source

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Frontiers in Neuroscience, 2021
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
T. Žigman, Danijela Petković Ramadža, G. Šimić, I. Barić   +3 more
semanticscholar   +1 more source

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2020
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with ...
S. Mosegaard, G. Dipace, P. Bross, J. Carlsen, N. Gregersen, R. Olsen   +5 more
semanticscholar   +1 more source