Inherited Metabolic Disorders: From Bench to Bedside-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Inherited Metabolic Disorders: From Bench to Bedside

Published:2024-01-12 Issue:1 Volume:12 Page:174
ISSN:2227-9059
Container-title:Biomedicines
language:en
Short-container-title:Biomedicines

Author:

Fonseca Tiago¹²^ORCID,Macedo M. Fátima²³^ORCID

Affiliation:

1. Faculdade de Medicina, Universidade de Coimbra, 3000-548 Coimbra, Portugal

2. CAGE, Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, 4200-135 Porto, Portugal

3. Departamento de Ciências Médicas, University of Aveiro, 3810-193 Aveiro, Portugal

Abstract

Inherited metabolic disorders (IMDs), commonly referred to as inborn errors of metabolism, represent a spectrum of disorders with a defined (or presumed) primary genetic cause which disrupts the normal metabolism of essential molecules in the body [...]

Funder

FCT

Publisher

MDPI AG

Link

https://www.mdpi.com/2227-9059/12/1/174/pdf

Reference23 articles.

1. An International Classification of Inherited Metabolic Disorders (ICIMD);Ferreira;J. Inherit. Metab. Dis.,2021

2. The incidence of inherited metabolic disorders in the West Midlands, UK;Sanderson;Arch. Dis. Child.,2006

3. Amaral, O., Martins, M., Oliveira, A.R., Duarte, A.J., Mondragão-Rodrigues, I., and Macedo, M.F. (2023). The Biology of Lysosomes: From Order to Disorder. Biomedicines, 11.

4. Lysosomal storage diseases;Platt;Nat. Rev. Dis. Prim.,2018

5. Coutinho, M.F., Lacerda, L., and Alves, S. (2012). Glycosaminoglycan storage disorders: A review. Biochem. Res. Int.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP