LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Lysosomal acid lipase deficiency in pediatric patients: a scoping review

Witeck, Camila da Rosa; Schmitz, Anne Calbusch; Oliveira, Júlia Meller Dias de; Porporatti, André Luís; Canto, Graziela De Luca; Pires, Maria Marlene de Souza.

J. pediatr. (Rio J.); 98 (1), 2022

Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs amo...

Enfermedad de Acumulación de Colesterol Éster/diagnóstico, Enfermedad de Acumulación de Colesterol Éster/tratamiento farmacológico, Enfermedad de Acumulación de Colesterol Éster/genética, Hepatomegalia, Esterol Esterasa/genética, Esterol Esterasa/uso terapéutico, Enfermedad de Wolman/diagnóstico, Enfermedad de Wolman/genética

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mRNA transcription and protein expression of PPARgamma, FAS, and HSL in different parts of the carcass between fat-tailed and thin-tailed sheep

Xu, Xiaochun; Wei, Xuan; Yang, Yuxin; Niu, Wenzhi; Kou, Qifang; Wang, Xiaolong; Chen, Yulin.

Electron. j. biotechnol; 18 (3), 2015

Background The objective of this study was to compare the level differences of mRNA transcription and protein expression of PPARγ, FAS and HSL in different parts of the carcass in different tail-type sheep. Six Tan sheep and six Shaanbei fine-wool sheep aged 9 months were slaughtered and samples wer...

Ovinos, Ácido Graso Sintasas/genética, Ácido Graso Sintasas/metabolismo, PPAR gamma/genética, PPAR gamma/metabolismo, Transcripción Genética, ARN Mensajero, Esterol Esterasa/genética, Esterol Esterasa/metabolismo, Reacción en Cadena en Tiempo Real de la Polimerasa, Western Blotting, Cola (estructura animal)

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PPARgamma FAS, HSL mRNA and protein expression during Tan sheep fat-tail development

Xu, Xiaochun; Wei, Xuan; Yang, Yuxin; Niu, Wenzhi; Kou, Qifang; Wang, Xiaolong; Chen, Yulin.

Electron. j. biotechnol; 18 (2), 2015

Background The objective of this study was to investigate proliferator-activated receptor (PPARγ), fatty acid synthase (FAS) and hormone-sensitive lipase (HSL) mRNA and protein expression in fat tails of Tan sheep. Rams from different developmental stages (aged 3, 6, 9, 12, 15 and 18 months) were se...

Ovinos/crecimiento & desarrollo, Ovinos/genética, ARN Mensajero, Proteínas/metabolismo, Ácido Graso Sintasas/metabolismo, Ácido Graso Sintasas/genética, Factores de Transcripción, PPAR gamma/metabolismo, PPAR gamma/genética, Esterol Esterasa/metabolismo, Esterol Esterasa/genética, Reacción en Cadena en Tiempo Real de la Polimerasa, Western Blotting

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