Results 41 to 50 of about 3,006,865 (307)

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

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

Thrombosis in inherited factor VII deficiency

, 2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic
WULFF K, DOLCE A, AUERSWALD G, ASTERMARK J, BERNARDI, Francesco, INTERNATIONAL FACTOR VII DEFICIENCY STUDY GROUP, BATOROVA A, HERRMANN FH, MARIANI G, SCHVED JF, SCHULMAN S, INGERSLEV J, ETRO, Daniela, Batorova, A, Schved, JF, Schulman, S,, Astermark, J, Herrmann, FH, Auerswald, G, Dolce, A, Etro, D, Wulff, K, Mariani, G   +22 more
core   +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

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

Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease

, 2012
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism.
L. Calabresi, Monica Gomaraschi, G. Franceschini, Laura Calabresi, S. Simonelli, M. Gomaraschi, Sara Simonelli, Guido Franceschini   +7 more
core   +1 more source

Anemia and nutrition deficiency in dental practice [PDF]

, 2016
Орофациалните признаци и симптоми, могат да бъдат първото клинично представяне на различните анемии и да насочат вниманите на денталните лекари за необходимо доизясняване на причините и консултация със съответните специалисти.
Krasteva, Assya Zaharieva; Faculty of Dental Medicine Medical University - Sofia, Assya Zaharieva Krasteva   +1 more
core   +1 more source

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
core   +2 more sources