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Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria.
Mol Genet Metab Rep. 2020 Aug 21;25:100640. doi: 10.1016/j.ymgmr.2020.100640. eCollection 2020 Dec.
Mol Genet Metab Rep. 2020.
PMID: 32874918
Free PMC article.
[Early enzyme replacement therapy - hope for patients with mucopolysaccharidosis Type II].
Orchel-Szastak K, Ptak K, Hrnciar K, Pilch B, Kania U, Bik-Multanowski M.
Orchel-Szastak K, et al.
Pediatr Endocrinol Diabetes Metab. 2017;23(2):111-116. doi: 10.18544/PEDM-23.02.0082.
Pediatr Endocrinol Diabetes Metab. 2017.
PMID: 29073295
Free article.
Polish.
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Assessment of the function and morphology of the thyroid gland in paediatric patients treated with enzyme replacement therapy due to selected storage diseases - preliminary results of our own research and a review of the literature.
Furtak A, Wędrychowicz A, Roztoczyńska D, Januś D, Orchel-Szastak K, Kwinta P, B Starzyk J.
Furtak A, et al. Among authors: orchel szastak k.
Pediatr Endocrinol Diabetes Metab. 2022;28(2):114-122. doi: 10.5114/pedm.2022.112860.
Pediatr Endocrinol Diabetes Metab. 2022.
PMID: 35399045
Free PMC article.
Review.
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