Results 21 to 30 of about 718 (127)
Neonatal molybdenum cofactor deficiency and ectopia lentis in a Saudi Arabian patient
International Journal of Pediatrics & Adolescent Medicine, 2014 Molybdenum cofactor deficiency (MCD) is a rare and ultimately fatal metabolic dis-ease that results in extensive neurodegeneration in early infancy. The causal association of MCD with sulfite oxidase deficiency, a known cause of subluxed lenses (ectopia ...
Meshaal A. Al-Obaidalla +3 more
doaj +1 more source
Personalized antiseizure medication therapy in critically ill adult patients
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 43, Issue 11, Page 1166-1181, November 2023., 2023 Abstract Precision medicine has the potential to have a significant impact on both drug development and patient care. It is crucial to not only provide prompt effective antiseizure treatment for critically ill patients after seizures start but also have a proactive mindset and concentrate on epileptogenesis and the underlying cause of the seizures or ...
Sulaiman Almohaish +3 more
wiley +1 more source
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023 Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley +1 more source
Mitochondrial [2Fe‐2S] ferredoxins: new functions for old dogs
FEBS Letters, Volume 597, Issue 1, Page 102-121, January 2023., 2023 Mitochondrial [2Fe‐2S] ferredoxins are electron donors involved in numerous processes. While most eukaryotes contain only one ferredoxin, some species such as mammals including humans contain two isoforms, the FDX1 (aka adrenodoxin) and FDX2. They differ in their usually non‐overlapping substrate specificities.
Vinzent Schulz +5 more
wiley +1 more source
Differential expression of molybdenum cofactor synthesis 1 in cancers of the breast.
, 2021 Breast cancer affects women at relatively high frequency (1). We mined published microarray datasets (2, 3) to determine in an unbiased fashion and at the systems level genes most differentially expressed in the primary tumors of patients with breast ...
Shahan Mamoor
core +1 more source
, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363) +2 more
core +1 more source
, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363) +2 more
core +1 more source
, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363) +2 more
core +1 more source
, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363) +2 more
core +1 more source
, 2023 BackgroundIdentifying Kidney Renal Papillary Cell Carcinoma (KIRP) patients with high-risk, guiding individualized diagnosis and treatment of patients, and identifying effective prognostic targets are urgent problems to be solved in current research on ...
Mei Li (217363) +2 more
core +1 more source