Results 21 to 30 of about 2,937,536 (254)

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

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

COVID-19 and Inborn Errors of Immunity

Physiology, 2022
Inborn errors of immunity (IEI) are a heterogeneous group of disorders affecting immune host defense and immunoregulation. Considering the predisposition to develop severe and chronic infections, it is crucial to understand the clinical evolution of ...
O. Delmonte, R. Castagnoli, L. Notarangelo   +2 more
semanticscholar   +1 more source

Assessment of auditory functions in patients with hepatic glycogen storage diseases

The Turkish Journal of Pediatrics, 2022
Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı, Fatih Ezgü, İlyas Okur, Aslı İnci, Ayşe Kılıç, Ekin Özsaydı, Bülent Gündüz, Hakan Tutar, Nuriye Yıldırım Gökay, Leyla Tümer   +9 more
doaj   +1 more source

Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Science, 2022
Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C.
Danyel Lee, J. Le Pen, A. Yatim, B. Dong, Yann Aquino, Masato Ogishi, Rémi Pescarmona, E. Talouarn, D. Rinchai, Peng Zhang, M. Perret, Zhiyong Liu, I. Jordan, Şefika Elmas Bozdemir, G. Bayhan, C. Beaufils, L. Bizien, A. Bisiaux, Weite Lei, M. Hasan, Jie-Long Chen, Christina Gaughan, A. Asthana, V. Libri, Joseph M. Luna, F. Jaffré, Hans-Heinrich Hoffmann, E. Michailidis, Marion Moreews, Y. Seeleuthner, K. Bilguvar, Shrikant Mane, C. Flores, Yu Zhang, A. Arias, Rasheed A Bailey, A. Schlüter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, M. Materna, A. Gervais, M. Moncada-Vélez, Francesca Pala, T. Lazarov, R. Lévy, Anna-Lena Neehus, J. Rosain, Jesse R. Peel, Y. Chan, Marie‐Paule Morin, R. M. Pino-Ramírez, Serkan Belkaya, Lazaro Lorenzo, J. Antón, S. Delafontaine, J. Toubiana, F. Bajolle, V. Fumado, M. DeDiego, N. Fidouh, F. Rozenberg, J. Pérez-Tur, Shuibing Chen, T. Evans, F. Geissmann, P. Lebon, S. Weiss, D. Bonnet, X. Duval, Q. Pan-Hammarström, A. Planas, I. Meyts, F. Haerynck, A. Pujol, V. Sancho-Shimizu, Cliffton L. Dalgard, J. Bustamante, A. Puel, S. Boisson-Dupuis, B. Boisson, T. Maniatis, Qian Zhang, P. Bastard, L. Notarangelo, V. Béziat, R. Pérez de Diego, C. Rodríguez-Gallego, H. Su, R. Lifton, E. Jouanguy, A. Cobat, L. Alsina, S. Keleş, Elie Haddad, L. Abel, A. Belot, L. Quintana-Murci, C. Rice, R. Silverman, Shen-Ying Zhang, J. Casanova   +101 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 type I IFN immunity in patients with life-threatening COVID-19

Science, 2020
The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs).
Qian Zhang, P. Bastard, Zhiyong Liu, J. Le Pen, M. Moncada-Vélez, Jie Chen, Masato Ogishi, Ira K. D. Sabli, Stephanie Hodeib, Cecilia Korol, J. Rosain, K. Bilguvar, Junqiang Ye, A. Bolze, Benedetta Bigio, Rui Yang, A. Arias, Qinhua Zhou, Yu Zhang, Fanny Onodi, Sarantis Korniotis, Léa Karpf, Q. Philippot, Marwa Chbihi, Lucie Bonnet-Madin, K. Dorgham, Nikaïa Smith, W. Schneider, B. Razooky, Hans-Heinrich Hoffmann, E. Michailidis, Leen Moens, Ji Eun Han, Lazaro Lorenzo, L. Bizien, Philip Meade, Anna-Lena Neehus, A. Ugurbil, A. Corneau, Gaspard Kerner, P. Zhang, Franck Rapaport, Y. Seeleuthner, J. Manry, C. Masson, Y. Schmitt, A. Schlüter, Tom Le Voyer, Taushif Khan, Juan Li, J. Fellay, Lucie Roussel, Mohammad Shahrooei, M. Alosaimi, D. Mansouri, H. Al‐Saud, F. Al-Mulla, F. Almourfi, S. Al‐Muhsen, F. Alsohime, Saeed H. Al Turki, R. Hasanato, D. van de Beek, A. Biondi, L. Bettini, M. D'Angiò, P. Bonfanti, L. Imberti, A. Sottini, S. Paghera, E. Quiros-Roldan, Camillo Rossi, Andrew J. Oler, Miranda F. Tompkins, C. Alba, I. Vandernoot, J. Goffard, G. Smits, I. Migeotte, F. Haerynck, P. Soler-Palacín, A. Martín-Nalda, R. Colobran, P. Morange, S. Keleş, Fatma Çölkesen, T. Ozcelik, K. Yasar, S. Şenoğlu, Ş. Karabela, C. Rodríguez-Gallego, G. Novelli, S. Hraiech, Y. Tandjaoui-Lambiotte, X. Duval, C. Laouénan, A. Snow, Cliffton L. Dalgard, J. Milner, D. Vinh, T. Mogensen, N. Marr, A. Spaan, B. Boisson, S. Boisson-Dupuis, J. Bustamante, A. Puel, Michael J. Ciancanelli, I. Meyts, T. Maniatis, V. Soumelis, A. Amara, M. Nussenzweig, A. García-Sastre, F. Krammer, A. Pujol, D. Duffy, R. Lifton, Shen-Ying Zhang, G. Gorochov, V. Béziat, E. Jouanguy, V. Sancho-Shimizu, C. Rice, L. Abel, L. Notarangelo, A. Cobat, H. Su, J. Casanova   +128 more
semanticscholar   +1 more source

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of Clinical Immunology, 2020
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee.
S. Tangye, W. Al-Herz, A. Bousfiha, T. Chatila, C. Cunningham-Rundles, Amos Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, C. Picard, J. Puck, T. Torgerson, J. Casanova, K. Sullivan   +16 more
semanticscholar   +1 more source

Future of Therapy for Inborn Errors of Immunity

Clinical reviews in allergy and immunology, 2022
Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary immunodeficiencies (PI) and the recognition of immune dysregulation as a feature in some have prompted the use of “inborn errors of immunity” (IEI) as a more ...
E. Perez
semanticscholar   +1 more source