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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.
Mol Genet Metab. 2015.
PMID: 26490222
Free article.
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.
Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K.
Stockler-Ipsiroglu S, et al. Among authors: apatean d.
Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3.
Mol Genet Metab. 2015.
PMID: 25497838
Free article.
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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Apatean D, Rakic B, Brunel-Guitton C, Hendson G, Bai R, Sargent MA, Lavoie PM, Patel M, Stockler-Ipsiroglu S.
Apatean D, et al.
Mol Genet Metab Rep. 2019 Jan 18;18:32-38. doi: 10.1016/j.ymgmr.2018.12.006. eCollection 2019 Mar.
Mol Genet Metab Rep. 2019.
PMID: 30723688
Free PMC article.
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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
Apatean D, Rakic B, Brunel-Guitton C, Hendson G, Bai R, Sargent MA, Lavoie PM, Patel M, Stockler-Ipsiroglu S.
Apatean D, et al.
Mol Genet Metab Rep. 2019 Apr 30;19:100472. doi: 10.1016/j.ymgmr.2019.100472. eCollection 2019 Jun.
Mol Genet Metab Rep. 2019.
PMID: 31065540
Free PMC article.
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