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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: ngu lh. 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.
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
Ismail NF, Rani AQ, Nik Abdul Malik NM, Boon Hock C, Mohd Azlan SN, Abdul Razak S, Keng WT, Ngu LH, Silawati AR, Yahya NA, Mohd Yusoff N, Sasongko TH, Zabidi-Hussin ZA. Ismail NF, et al. Among authors: ngu lh. J Mol Diagn. 2017 Mar;19(2):265-276. doi: 10.1016/j.jmoldx.2016.10.009. Epub 2017 Jan 11. J Mol Diagn. 2017. PMID: 28087349 Free article.
Correction: Rare disease in Malaysia: Challenges and solutions.
Shafie AA, Supian A, Hassali MAA, Ngu LH, Thong MK, Ayob H, Chaiyakunapruk N. Shafie AA, et al. Among authors: ngu lh. PLoS One. 2022 Aug 26;17(8):e0273939. doi: 10.1371/journal.pone.0273939. eCollection 2022. PLoS One. 2022. PMID: 36018891 Free PMC article.
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N. Brun L, et al. Among authors: ngu lh. Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Neurology. 2010. PMID: 20505134
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J. Hwu WL, et al. Among authors: ngu lh. Mol Genet Metab. 2012 Sep;107(1-2):136-44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22864057
60 results