PubMed for id: 181981

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Brazilian guidelines for the pharmacological treatment of the pulmonary symptoms of cystic fibrosis. Official document of the Sociedade Brasileira de Pneumologia e Tisiologia (SBPT, Brazilian Thoracic Association).

Athanazio RA, Tanni SE, Ferreira J, Dalcin PTR, Fuccio MB, Esposito C, Canan MGM, Coelho LS, Firmida MC, Almeida MB, Marostica PJC, Monte LFV, Souza EL, Pinto LA, Rached SZ, Oliveira VSB, Riedi CA, Silva Filho LVRFD. Athanazio RA, et al. J Bras Pneumol. 2023 May 15;49(2):e20230040. doi: 10.36416/1806-3756/e20230040. eCollection 2023. J Bras Pneumol. 2023. PMID: 37194817 Free PMC article.

French recommendations for the diagnosis and management of lymphangioleiomyomatosis.

Cottin V, Blanchard E, Kerjouan M, Lazor R, Reynaud-Gaubert M, Taille C, Uzunhan Y, Wemeau L, Andrejak C, Baud D, Bonniaud P, Brillet PY, Calender A, Chalabreysse L, Court-Fortune I, Desbaillets NP, Ferretti G, Guillemot A, Hardelin L, Kambouchner M, Leclerc V, Lederlin M, Malinge MC, Mancel A, Marchand-Adam S, Maury JM, Naccache JM, Nasser M, Nunes H, Pagnoux G, Prévot G, Rousset-Jablonski C, Rouviere O, Si-Mohamed S, Touraine R, Traclet J, Turquier S, Vagnarelli S, Ahmad K; OrphaLung network. Cottin V, et al. Respir Med Res. 2023 Jun;83:101010. doi: 10.1016/j.resmer.2023.101010. Epub 2023 Mar 24. Respir Med Res. 2023. PMID: 37087906

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

Geberhiwot T, Wasserstein M, Wanninayake S, Bolton SC, Dardis A, Lehman A, Lidove O, Dawson C, Giugliani R, Imrie J, Hopkin J, Green J, de Vicente Corbeira D, Madathil S, Mengel E, Ezgü F, Pettazzoni M, Sjouke B, Hollak C, Vanier MT, McGovern M, Schuchman E. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.

Updated Management Guidelines for Adenosine Deaminase Deficiency.

Grunebaum E, Booth C, Cuvelier GDE, Loves R, Aiuti A, Kohn DB. Grunebaum E, et al. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1665-1675. doi: 10.1016/j.jaip.2023.01.032. Epub 2023 Feb 1. J Allergy Clin Immunol Pract. 2023. PMID: 36736952

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.

Wang B, Bonkovsky HL, Lim JK, Balwani M. Wang B, et al. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. Gastroenterology. 2023. PMID: 36642627 Free PMC article. Review.

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Dardis A, Michelakakis H, Rozenfeld P, Fumic K, Wagner J, Pavan E, Fuller M, Revel-Vilk S, Hughes D, Cox T, Aerts J; International Working Group of Gaucher Disease (IWGGD). Dardis A, et al. Orphanet J Rare Dis. 2022 Dec 21;17(1):442. doi: 10.1186/s13023-022-02573-6. Orphanet J Rare Dis. 2022. PMID: 36544230 Free PMC article.

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net. Dungan JS, et al. Genet Med. 2023 Feb;25(2):100336. doi: 10.1016/j.gim.2022.11.004. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524989

[Clinical practice guidelines for Fragile X syndrome].

Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, Duan R, Li G, Xi H, Peng Y, Wu L. Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Nov 10;39(11):1181-1186. doi: 10.3760/cma.j.cn511374-20220819-00564. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36317200 Chinese.

Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.

Verkouteren BJ, Roemen GM, Schuurs-Hoeijmakers JH, Abdul Hamid M, van Geel M, Speel EM, Mosterd K. Verkouteren BJ, et al. J Clin Pathol. 2023 May;76(5):345-348. doi: 10.1136/jcp-2022-208391. Epub 2022 Aug 24. J Clin Pathol. 2023. PMID: 36002246

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis.

Christian S, Cirino A, Hansen B, Harris S, Murad AM, Natoli JL, Malinowski J, Kelly MA. Christian S, et al. Open Heart. 2022 Apr;9(1):e001815. doi: 10.1136/openhrt-2021-001815. Open Heart. 2022. PMID: 35387861 Free PMC article.

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