Results 211 to 220 of about 506,491 (309)

Contribution of vitamin B 6 deficiency to anemia in children on regular hemodialysis. [PDF]

BMC Pediatr
Atia F, Bazaraa H, Abdelatty Y, Lotfy S, Eryan E.   +4 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Clinical evaluation of children referred to paediatric haematology clinics for elevated serum vitamin B₁₂ levels. [PDF]

BMJ Paediatr Open
Yiğit Y.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Vitamin B₁₂ deficiency in long-term metformin use and clinician awareness: a scoping review. [PDF]

BMJ Open
Parsonage I, Wainwright D, Barratt J.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Vitamin B Supplementation and Homocysteine Reduction in Nigerian Children with Nephrotic Syndrome: A Randomized Controlled Trial. [PDF]

World J Nutr Health
Orimadegun BE, Ademola AA, Asinobi AO.
europepmc   +1 more source

A high‐fat diet with vitamin D and propylthiouracil produces a pro‐atherogenic phenotype in rats

Animal Models and Experimental Medicine, EarlyView.
Male Sprague–Dawley rats received a cholesterol‐rich high‐fat diet supplemented with vitamin D and propylthiouracil for 11 weeks. The model induced dyslipidemia (increased total cholesterol/low‐density lipoprotein, decreased triglycerides), inflammation (increased interleukin‐6 and serum amyloid A), hypercalcemia, and reduced circulating endothelial ...
Angélique Lewies, Vitaris Kodogo, Johannes Frederik Wentzel, Francis Edwin Smit   +3 more
wiley   +1 more source

Vitamin B supplementation enhances the efficacy of non-steroidal anti-inflammatory drugs in patients with painful foot and ankle conditions: A multicenter, prospective, randomized controlled trial. [PDF]

PLoS One
Song MG, Park CH, Choi YR, Choi GW, Kim BS.   +4 more
europepmc   +1 more source

Cell therapy comparison of dental pulp stem cells, hepatocytes, and their exosomes for liver fibrosis treatment in rats

Animal Models and Experimental Medicine, EarlyView.
DPSCs, hepatocytes, and exosomes were tested for liver fibrosis therapy. Exosome‐based treatment exhibited superior antioxidative and regenerative effects. Liver enzymes, oxidative stress, and profibrotic markers were significantly reduced. α‐SMA, desmin, and related gene expression were downregulated.
Sahar Rahimi, Seyedeh Mahdieh Khoshnazar, Ali Derakhshani, Nader Shahrokhi   +3 more
wiley   +1 more source