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Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31.
Ann Neurol. 2023.
PMID: 37548038
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J.
Mínguez Rodríguez B, et al.
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.
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[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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