FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
Molecular Genetics & Genomic Medicine, 2019 Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH.
Kai Muru +8 more
doaj +1 more source
JIMD Reports, 2022 In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly.
Albina Tummolo +10 more
doaj +1 more source
Exploration of the Protection of Riboflavin Laurate on Oral Mucositis Induced by Chemotherapy or Radiotherapy at the Cellular Level: What Is the Leading Contributor? [PDF]
, 2013 Oral or gastrointestinal mucositis is a frequent phenomenon in cancer patients receiving chemotherapy or radiotherapy. In addition, several clinical investigations have demonstrated in recent years that riboflavin laurate has the potential to protect the
Barrington +33 more
core +1 more source
Lactic fermentation as a strategy to improve the nutritional and functional values of pseudocereals [PDF]
, 2019 One of the greatest challenges is to reduce malnutrition worldwide while promoting sustainable agricultural and food systems. This is a daunting task due to the constant growth of the population and the increasing demands by consumers for functional ...
Gerez, Carla Luciana +2 more
core +1 more source
Severe zinc depletion of escherichia coli: roles for high affinity zinc binding by ZinT, zinc transport and zinc-independent proteins [PDF]
, 2009 Zinc ions play indispensable roles in biological chemistry. However, bacteria have an impressive ability to acquire Zn2+ from the environment, making it exceptionally difficult to achieve Zn2+ deficiency, and so a comprehensive understanding of the ...
Akanuma +62 more
core +3 more sources
Orphanet Journal of Rare Diseases, 2012 The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity.
Bosch Annet M +5 more
doaj +1 more source
Magnetic resonance spectroscopy in migraine: what have we learned so far? [PDF]
, 2012 Objective: To summarize and evaluate proton (H-1) and phosphorus (P-31) magnetic resonance spectroscopy (MRS) findings in migraine. Methods: A thorough review of H-1 and/or P-31-MRS studies in any form of migraine published up to September 2011 ...
Achten, Eric +2 more
core +2 more sources
A.05 An epidemiologic study of SLC52A2-related Riboflavin Transport Deficiency [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2017 Background: Riboflavin transporter deficiency (RTD), formerly known as Brown-Vialetto-van Laere syndrome, is an early-onset neurodegenerative disorder with distinctive phenotypes. RTD is caused by mutations in either the SLC52A2 or SLC52A3 genes that encode riboflavin transporters RFVT-2 and RFVT-3, respectively.
JK Mah, M Menezes, K Massey
openaire +1 more source
Proteomic and metabolomic analyses reveal metabolic responses to 3-hydroxypropionic acid synthesized internally in cyanobacterium Synechocystis sp. PCC 6803 [PDF]
, 2016 Additional file 1: Figure S1.
Lei Chen, Weiwen Zhang, Yunpeng Wang
core +3 more sources
Multi-Omics Analyses Detail Metabolic Reprogramming in Lipids, Carnitines, and Use of Glycolytic Intermediates between Prostate Small Cell Neuroendocrine Carcinoma and Prostate Adenocarcinoma. [PDF]
, 2019 As the most common cancer in men, prostate cancer is molecularly heterogeneous. Contributing to this heterogeneity are the poorly understood metabolic adaptations of the two main types of prostate cancer, i.e., adenocarcinoma and small cell ...
Alumkal, Joshi J +8 more
core +1 more source