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Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Gastroenterol Hepatol. 2022 Oct;45(8):585-592. doi: 10.1016/j.gastrohep.2021.12.005. Epub 2021 Dec 20.
Gastroenterol Hepatol. 2022.
PMID: 34942279
English, Spanish.
[Intestinal intussusception as a key sign of Celiac Disease. A pediatric case report].
Mínguez Rodríguez B, Montells Fuster S, Lomba Estévez M, Molera Busoms C, Martín de Carpi J.
Mínguez Rodríguez B, et al.
Arch Argent Pediatr. 2020 Apr;118(2):e188-e190. doi: 10.5546/aap.2020.e188.
Arch Argent Pediatr. 2020.
PMID: 32199062
Free article.
Spanish.
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Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group.
Domínguez-Carral J, et al.
Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31.
Ann Neurol. 2023.
PMID: 37548038
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