Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic ...
Original Articles: Important manuscripts that may be expected to influence or change clinical or research practice with regard to inherited metabolic disorders. Original articles may include comprehensive studies on disease features in groups of patients, important novel information on a disease or relevant...
3. Current status of inherited metabolic disorders in Pakistan Infant and under five mortality rates of Pakistan are 74 per 1000 and 89 per 1000 live births [7]. Birth asphyxia, still birth, pneumonia, diarrhea, sepsis, neonatal tetanus and congenital birth defects are attributed major causes of...
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...
A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD). Healthcare. 2023; 11(2):178. https://doi.org/10.3390/healthcare11020178 Chicago/Turabian Style Banjar, Haneen Reda. 2023. "A Smart Monitoring ...
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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 ...
There is a need for PROMs in rare inherited metabolic disorders (IMDs), a group of more than 1000 heterogeneous and often life-threatening diseases [21]. The introduction of newborn screening programs detecting currently more than 50 IMDs and the development of new therapies, increased survival,...
There is a need for PROMs in rare inherited metabolic disorders (IMDs), a group of more than 1000 heterogeneous and often life-threatening diseases [21]. The introduction of newborn screening programs detecting currently more than 50 IMDs and the development of new therapies, increased survival,...
In the set- ting of inherited metabolic disorders, we have previously reported a new type of inherited defect of vitamin B12 (cobalamin, cbl) metabolism with an epimutation in the promoter of the MMACHC gene, which we called epi- cblC [2]. Patients with epi-cblC have the same ...