JOURNAL OF INHERITED METABOLIC DISEASE《遗传性代谢病杂志》 (官网投稿) 简介 期刊简称J INHERIT METAB DIS 参考译名《遗传性代谢病杂志》 核心类别 SCIE(2024版), 目次收录(维普),外文期刊, IF影响因子 自引率 主要研究方向医学-GENETICS & HEREDITY 遗传学;MEDICINE, RESEARCH & EXPERIMENTAL 医学:研究与实验...
The article presents s of various studies on inherited metabolic diseases. In one of the studies the complete diagnosis of late onset Pompe's disease is a lengthy procedure, especially as it usually presents with a proximal myopathy for which there is an exhaustive list of differentials. ...
As disease-specific and generic instruments assess different aspects of HrQoL, the use of both instruments in a complementary way has been suggested [150, 151]. A new group of HrQoL instruments is arising, namely disease group-specific instruments. In the metabolic field, we identified the QoL ...
Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes ...
(PKU) has disease-specific questionnaires, however, there are still studies that use generic instruments to evaluate HrQoL in PKU patients. Importantly, among the identified tools there is a broader instrument targeting metabolic diseases, namely the QoL Scale for Metabolic Diseases-Parent Form. This...
newborn screening (NBS);inherited metabolic disease;inherited disorder;public health;paediatrics;rare diseases;genetics;congenital disorders;methodology;Wilson and Jungner 1. Introduction Newborn screening (NBS) started in the 1960s as a critical part of public health programmes designed to test infants ...
COVID-19 pandemic is an organisational challenge for both healthcare providers and patients. People with rare inherited metabolic disorders (IMD) and rare autoinflammatory diseases (AD) are vulnerable patients whose well-being is deeply connected with regular follow-ups. This study aimed to assess ho...
2016). Moreover, the whole group of neurometabolic disorders, many of them lacking biomarkers, is expected to experience substantial growth in the near future as a result of advanced genetic diagnostic techniques. In fact, as long as biochemistry is involved, any kind of monogenic disease can ...
Alvin Zipursky Editor-in-Chief Inherited Mitochondrial DNA Depletion ORLY ELPELEG The Metabolic Disease Unit, Shaare-Zedek Medical Center, and The Hebrew University, Faculty of Medicine, Jerusalem 91031, Israel ABSTRACT Mitochondrial DNA (mtDNA) depletion is associated with het- erogeneous clinical ...
Screening parents, siblings and subsequent pregnancies, however, is likely to provide a cost effective and acceptable alternative in reducing the burden and enabling early, effective detection of affected progeny before the stage when neurometabolic changes become irreversible in developing countries like ...