Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mohamad Sharkia"'
Autor:
Guy Van Vliet, Marie-Thérèse Berthier, Cheri Deal, Mohamad Sharkia, Johnny Deladoëy, Stéphanie Michaud, Laura Stewart, Jean-Pierre Chanoine, Yves Giguère
Publikováno v:
The Journal of Pediatrics. 163:800-805
Objectives To describe the response of thyroid-stimulating hormone (TSH) to thyroid-releasing hormone in children and adolescents with Prader-Willi syndrome (PWS), and to compare TSH and total thyroxine (TT4) concentrations measured on neonatal scree
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0b95f47660fe83a7f60d057c0b5ddf
https://doi.org/10.1016/j.jpeds.2013.03.058
https://doi.org/10.1016/j.jpeds.2013.03.058
Autor:
Yehuda G. Assaraf, Stavit Drori, Rachel Straussberg, Hanna Bessler, Gerrit Jansen, Mohamad Sharkia, Yael Sofer, Inbal Lasry, Fabian Glaser, Bluma Berman
Publikováno v:
Lasry, I, Berman, B, Straussberg, R, Sofer, Y, Bessler, H, Sharkia, M, Glaser, F, Jansen, G, Drori, S & Assaraf, Y G 2008, ' A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function ', Blood, vol. 112, no. 5, pp. 2055-2061 . https://doi.org/10.1182/blood-2008-04-150276
Blood, 112(5), 2055-2061. American Society of Hematology
Blood, 112(5), 2055-2061. American Society of Hematology
Hereditary folate malabsorption (HFM) patients harbor inactivating mutations including R113S in the proton-coupled folate transporter (PCFT), an intestinal folate transporter with optimal activity at acidic pH. Here we identified and characterized a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ae70173e234c1b52a21301fd0481ca
https://doi.org/10.1182/blood-2008-04-150276
https://doi.org/10.1182/blood-2008-04-150276
Publikováno v:
Journal of Child Neurology. 22:783-786
Folate is essential for normal brain development. This report describes a 15-month-old boy who presented with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood (1.13 nmol/L) and cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bac3eed9471ab6a3827ee3419842ccd
https://doi.org/10.1177/0883073807304004
https://doi.org/10.1177/0883073807304004
Publikováno v:
Renal failure. 22(2)
Of a total of 1545 admissions of end stage renal failure (ESRD) patients, fifty-six (3.6%) were admitted during a ten-year period with hypoglycemia. Thirty-eight of them were diabetic while the others were non-diabetic patients. The most common etiol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4add6e1d41b0373c8957716beb190e7
https://pubmed.ncbi.nlm.nih.gov/10803766
https://pubmed.ncbi.nlm.nih.gov/10803766