Results 31 to 40 of about 2,863,419 (210)

Differences in the frequency of genetic variants associated with iron imbalance among global populations.

PLoS ONE, 2020
Iron deficiency anaemia is a major health problem affecting approximately 1.2 billion people worldwide. Young children, women of reproductive age and pregnant women living in sub-Saharan Africa are the most vulnerable.
Momodou W Jallow, Carla Cerami, Taane G Clark, Andrew M Prentice, Susana Campino   +4 more
doaj   +1 more source

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. [PDF]

PLoS ONE, 2016
Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But the ranges for GGT in patients with ATP8B1 or ABCB11 deficiency are unclear.
Neng-Li Wang, Li-Ting Li, Bing-Bing Wu, Jing-Yu Gong, Kuerbanjiang Abuduxikuer, Gang Li, Jian-She Wang   +6 more
doaj   +1 more source

Temporary nutrient deficiency - a difficult case for diagnosis and prognosis by plant analysis [PDF]

, 2000
Plant analysis aims to either detect deficiency at the time of sampling (diagnosis) or predict its occurrence at a later stage of growth (prognosis). Its use is based on the presumption that the plant nutrient status will either be constant with plant ...
Richard W. Bell, Bell, R.W.
core   +1 more source

A 10-year follow-up of therapeutic rehabilitation in a child with LMNA-associated congenital muscular dystrophy: a case report

Journal of the Pakistan Medical Association
Lamin A/C (LMNA)-associated congenital muscular dystrophy (L-CMD) is a rare neuromuscular disorder caused by mutations in the LMNA gene, characterised by droopy head syndrome with motor developmental delays and weakness of the spinal axial and proximal ...
Zhimei Liu, Shuo Zhao, Ziheng Wang, Minhua Chen, Kelong Cai, Kang Yang   +5 more
doaj   +1 more source

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Egyptian Journal of Medical Human Genetics, 2022
Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopausal women, and pregnant women. In most cases,
Farah Nur Elina Mohd Atan, Wan Asmuni Wan Mohd Saman, Yuhaniza Shafinie Kamsani, Zalizah Khalid, Amirah Abdul Rahman   +4 more
doaj   +1 more source

Toll-like receptor 9 suppresses lupus disease in Fas-sufficient MRL Mice. [PDF]

PLoS ONE, 2017
Genetic deficiency in TLR9 accelerates pathogenesis in the spontaneous polygenic MRL.Faslpr murine model of systemic lupus erythematosus, despite the absence of anti-nucleosome autoantibodies. However, it could be argued that this result was dependent on
Kevin M Nickerson, Yujuan Wang, Sheldon Bastacky, Mark J Shlomchik   +3 more
doaj   +1 more source

Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus

JCRPE, 2023
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia.
Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve   +6 more
doaj   +1 more source

"Test me and treat me" - attitudes to vitamin D deficiency and supplementation: a qualitative study [PDF]

, 2015
© 2015 BMJ Open, "Test me and treat me"-attitudes to vitamin D deficiency and supplementation: a qualitative study.
Jakeways, Niki; id_orcid, Hull, Sally, Sohanpal, Ratna, Famakin, O, Sohanpal, R, Gadhvi, Dev, Kotta, S, Jakeways, N, Famakin, Olufunke, Martineau, Adrian, Martineau, A, Kotta, Siddharth, Saeed, M, Hull, S, Saeed, Maryum, Griffiths, Chris, Gadhvi, D, Griffiths, C   +17 more
core   +1 more source

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

BMC Medical Genetics, 2020
Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolism.
Margarita E. Polyak, Elena V. Zaklyazminskaya   +1 more
doaj   +1 more source

OTULIN deficiency: focus on innate immune system impairment

Frontiers in Immunology
OTULIN deficiency is a complex disease characterized by a wide range of clinical manifestations, including skin rash, joint welling, lipodystrophy to pulmonary abscess, and sepsis shock.
Bo Dou, Gang Jiang, Wang Peng, Chentao Liu   +3 more
doaj   +1 more source