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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Front Pediatr. 2023 Jun 26;11:1113422. doi: 10.3389/fped.2023.1113422. eCollection 2023.
Front Pediatr. 2023.
PMID: 37435168
Free PMC article.
Review.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T.
Kuseyri Hübschmann O, et al.
Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
Nat Commun. 2021.
PMID: 34545092
Free PMC article.
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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Ceylaner S, Önenli Mungan HN.
Şeker Yılmaz B, et al. Among authors: onenli mungan hn.
Turk J Med Sci. 2021 Jun 28;51(3):1220-1228. doi: 10.3906/sag-2001-72.
Turk J Med Sci. 2021.
PMID: 33453710
Free PMC article.
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