Results 121 to 130 of about 38,522 (353)
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source
Book Review: Brain Damage by Inborn Errors of Metabolism [PDF]
, 1969 E. F. Scowen
openalex +1 more source
Movement Disorders, EarlyView.Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta +23 more
wiley +1 more source
Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]
, 2019 Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core +1 more source
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies [PDF]
, 1975 Hildegard Przyrembel +6 more
openalex +1 more source
Identification and functional dissection of maize disease resistance genes
New Plant Protection, EarlyView.The review summarizes recent research advances in the cloning and functional analysis of maize resistance genes and discusses new approaches that may facilitate these research processes, aiming to provide references for future studies. Abstract Maize (Zea mays L.) serves as a staple food in numerous countries and is also used as a raw material for ...
Hongliang Wu +6 more
wiley +1 more source
Genetical theory and the "inborn errors of metabolism". [PDF]
, 1970 H. Harris
openalex +1 more source
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To compare the audiological success and longevity of bone cement to standard ossiculoplasty techniques. Data Sources PubMed, Embase, Cochrane Library, Medline, and the Web of Science were systematically searched for studies from the date of inception to November 8, 2024.
Natasha Dowell +4 more
wiley +1 more source
Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
Neurobiology of Disease, 2010 AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant +3 more
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