Zobrazeno 1 - 10
of 55
pro vyhledávání: '"NBS, Newborn screening"'
Autor:
Mohini A. Gunnett, Elizabeth Baker, Cathy Mims, Staci T. Self, Hector H. Gutierrez, Jennifer S. Guimbellot
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundSome infants undergoing newborn screening (NBS) tests have inconclusive sweat chloride test (SCT) results that lead to the designation of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis/CFTR-related metabolic syndrome (CFSPID/CRMS).
Externí odkaz:
https://doaj.org/article/8035a43de04d4eb3973b919031e6fc56
Akademický článek
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Autor:
Joshua Dubland
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 23, Iss, Pp 7-13 (2022)
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 23, Iss, Pp 7-13 (2022)
Ion mobility spectrometry (IMS) is an analytical technique where ions are separated in the gas phase based on their mobility through a buffer gas in the presence of an electric field. An ion passing through an IMS device has a characteristic collisio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae14ffaafac42c15bc615e2dc76a45d
http://europepmc.org/articles/PMC8703053
http://europepmc.org/articles/PMC8703053
Publikováno v:
Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 20, Iss, Pp 1-10 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab
Journal of Mass Spectrometry and Advances in the Clinical Lab
Highlights • Analysis of 2-methylcitric acid, methylmalonic acid, and homocysteine in DBS. • A dual derivatization LC-MS/MS strategy developed for use in second-tier NBS. • Second-tier panel replaces multiple initial follow-up tests. • Improv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50beebd48c7a916d499a13356b9284c0
https://doi.org/10.1016/j.jmsacl.2021.03.001
https://doi.org/10.1016/j.jmsacl.2021.03.001
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, 33:100929. Elsevier
Pompe disease (PD) is a progressive neuromuscular disorder caused by a lysosomal acid α-glucosidase (GAA) deficiency. Enzymatic replacement therapy is available, but early diagnosis by newborn screening (NBS) is essential for early treatment and bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263
https://hdl.handle.net/11577/3468263
Autor:
Kimitoshi Nakamura, Chiemi Hayasaka, Yoko Nakajima, Jun Kido, Shirou Matsumoto, Fumio Endo, Jiro Kagawa, Keitaro Yamada, Eiko Takeshita, Hiroyuki Iijima, Tetsuya Ito
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021)
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236b252d9d0acfaeacd3749ecb87ec23
http://europepmc.org/articles/PMC8495172
http://europepmc.org/articles/PMC8495172
Autor:
Rossana Sanchez Russo, Charles M. Rowland, Chung Lee, Pranoot Tanpaiboon, Stephen D. Cederbaum, Inderneel Sahai, Denise Salazar, Derek Wong, Yue Huang, Felicitas Lacbawan, Rajesh Sharma, Juanita Neira, Susan Sklower Brooks, Annette Feigenbaum, Kelly E. Jackson
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008e4d149ea6d39a12480c95e77f45a7
https://pubmed.ncbi.nlm.nih.gov/33732618
https://pubmed.ncbi.nlm.nih.gov/33732618
Autor:
Tadej Battelino, Magdalena Avbelj Stefanija, Ajda Mezek, Urh Groselj, Ana Drole Torkar, Neli Bizjak, Mojca Zerjav Tansek, Barbka Repic Lampret
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100691-(2020)
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, vol. 25, 100691, 2020.
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, vol. 25, 100691, 2020.
3-methylglutaconic aciduria type 1 (3-MGA-I) (MIM ID #250950) is an ultra-rare, autosomal recessive organic aciduria, resulting from mutated AUH gene, leading to the deficient 3-methylglutaconyl-CoA hydratase (3-MGH). Only around 40 cases are previou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eabd373c4a138fac7c1efc0120e62799
http://www.sciencedirect.com/science/article/pii/S2214426920301373
http://www.sciencedirect.com/science/article/pii/S2214426920301373
Autor:
Toshio Yamamoto, Yoichi Wada, Tomoe Kanno, Ai Kurihara, Yuko Sato, Yasuko Mikami-Saito, Shigeo Kure, Natsuko Arai-Ichinoi, Masamitsu Maekawa
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100674-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100674-(2020)
Newborn screening is a public health care program worldwide to prevent patients from critical illness or conditions. Tandem mass spectrometry allows multiplex, inexpensive, and rapid newborn screening. However, mass spectrometry used for newborn scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a24706e61521e61fb2c93176c63a6cd
https://pubmed.ncbi.nlm.nih.gov/33204637
https://pubmed.ncbi.nlm.nih.gov/33204637