Zobrazeno 1 - 10
of 843
pro vyhledávání: '"Inherited Metabolic Disorders"'
Autor:
Olivia Miu Yung Ngan, Cheuk Wing Fung, Mei Kwun Kwok, Eric Kin Cheong Yau, Shing Yan Robert Lee, Ho-Ming Luk, Kiran Moti Belaramani
Publikováno v:
BMC Public Health, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Newborn screening programmes offer an opportunity to obtain dried blood spots (DBS) cards that contain a wealth of biological information that can be stored for long periods and have potential benefits for research and quality ass
Externí odkaz:
https://doaj.org/article/16b2e42265a444058116596d1072fa6e
Autor:
Francesco Porta, Arianna Maiorana, Vincenza Gragnaniello, Elena Procopio, Serena Gasperini, Roberta Taurisano, Marco Spada, Carlo Dionisi-Vici, Alberto Burlina
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Background Long-chain fatty acid oxidation disorders (LC-FAOD) are rare and potentially life-threatening diseases that cause deficient energy production and accumulation of toxic metabolites. Despite dietary management, adherence to maximum
Externí odkaz:
https://doaj.org/article/c89fc9cb463c45048eeb2baf0393e5a9
Autor:
Xue Yang, Ruimiao Bai, Juan Zhang, Yunfan Yang, JuanJuan Zhang, Baozhu Wang, Zhankui Li, Xiping Yu
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundNeonatal deaths often result from preventable conditions that can be addressed with appropriate interventions. This study aims to analyze the distribution of the causes of neonatal death and explore genetic variations that lead to congenita
Externí odkaz:
https://doaj.org/article/598c37afab434eb1af0a873e7bdf5eb2
Autor:
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Publikováno v:
Muscles, Vol 3, Iss 1, Pp 4-15 (2024)
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cogniti
Externí odkaz:
https://doaj.org/article/2a0b634e5cd440ce9ec3c9e42072fe9c
Autor:
Kirsty Dickson, Henry H. L. Wu, Reena Sharma, Karolina M. Stepien, Ana Jovanovic, Rajkumar Chinnadurai
Publikováno v:
Medicina, Vol 60, Iss 11, p 1733 (2024)
Background and Objectives: Inherited metabolic disorders (IMDs), primarily cystinosis, Fabry disease, and methylmalonic acidemia (MMA), are genetic conditions that typically result in multi-organ disease manifestations. Kidney function progressively
Externí odkaz:
https://doaj.org/article/1ef5d4f264a54cc5b8d36290ac429648
Autor:
Laura Ohl, Amanda Kuhs, Ryan Pluck, Emily Durham, Michael Noji, Nathan D. Philip, Zoltan Arany, Rebecca C. Ahrens-Nicklas
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101091- (2024)
Branched chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a recently described inherited neurometabolic disorder of branched chain amino acid (BCAA) metabolism implying increased BCAA catabolism. It has been hypothesized that a severe reduct
Externí odkaz:
https://doaj.org/article/f818517ac67c4b70a2e2d604114071d0
Autor:
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of
Externí odkaz:
https://doaj.org/article/6bd5436426fd421e948f26520ed12247
Autor:
Paulo Sgobbi, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Ícaro França Navarro Pinto, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundAcute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential biom
Externí odkaz:
https://doaj.org/article/33e19679dfe04101aeedd133779ded9c
Autor:
Beibei Zhao, Peichun Chen, Xuhui She, Xiuru Chen, Zhou Ni, Duo Zhou, Zinan Yu, Chang Liu, Xinwen Huang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can reveals China’s nationwide landscap
Externí odkaz:
https://doaj.org/article/bec1638d328a4e0f9c245790777b0a92
Autor:
Hunjin Luo, Jiqing Wang, Junfeng Chen, Huijian Yi, Xiaodong Yang, Yao Peng, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background and aims: Defective enzymes, cofactors, or transporters of metabolic pathways cause inherited metabolic disorders (IMDs), a group of genetic disorders. Several IMDs have serious consequences for the affected neonates. Newborn screening for
Externí odkaz:
https://doaj.org/article/d2cf0f4ff5184dcf91ad6f3d9aabbb7b