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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: hwu wl. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
Cockayne syndrome in a family.
Chien YH, Chou HC, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Jan-Feb;43(1):46-9. Acta Paediatr Taiwan. 2002. PMID: 11890228
An infant with heart murmur and dysmorphic face.
Chien YH, Kuo PL, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Sep-Oct;43(5):241-3. Acta Paediatr Taiwan. 2002. PMID: 12607476 No abstract available.
410 results