Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II von Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein

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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay von Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi

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Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics von Liang, Jao-Shwann, Hung, Kun-Long, Lin, Li-Ju, Ong, Winnie Peitee, Keng, Wee Teik, Lu, Jyh-Feng

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients von Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A, Sachdev, Rani, McGillivray, George, Leventer, Richard J, Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J, Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M H, Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi

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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 von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Expanding the phenome and variome of skeletal dysplasia von Maddirevula, Sateesh, Alsahli, Saud, Alhabeeb, Lamees, Patel, Nisha, Alzahrani, Fatema, Shamseldin, Hanan E., Anazi, Shams, Ewida, Nour, Alsaif, Hessa S., Mohamed, Jawahir Y., Alazami, Anas M., Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Al Tassan, Nada, Alshammari, Muneera, Alsagheir, Afaf, Seidahmed, Mohammed Zain, Sogati, Samira, Aglan, Mona S, Hamad, Muddathir H., Salih, Mustafa A., Hamed, Ahlam A., Alhashmi, Nadia, Nabil, Amira, Alfadli, Fatima, Abdel-Salam, Ghada M.H., Alkuraya, Hisham, Peitee, Winnie Ong, Keng, W.T., Qasem, Abdullah, Mushiba, Aziza M., Zaki, Maha S, Fassad, Mahmoud R., Alfadhel, Majid, Alexander, Saji, Sabr, Yasser, Temtamy, Samia, Ekbote, Alka V, Ismail, Samira, Hosny, Gamal Ahmed, Otaify, Ghada A., Amr, Khalda, Al Tala, Saeed, Khan, Arif O., Rizk, Tamer, Alaqeel, Aida, Alsiddiky, Abdulmonem, Singh, Ankur, Kapoor, Seema, Alhashem, Amal, Faqeih, Eissa, Shaheen, Ranad, Alkuraya, Fowzan S.

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Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Kuseyri Hübschmann, Oya, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia von Mohseni, Jafar, Boon Hock, Chia, Abdul Razak, Che, Othman, Syah Nor Iman, Hayati, Fatemeh, PeiTee, Winnie Ong, Haniffa, Muzhirah, Zilfalil, Bin Alwi, Mohd. Rawi, Rowani, Ngu, Lock-Hock, Sasongko, Teguh Haryo

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Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance von Habib, Anasufiza, Md Yunus, Zabedah, Azize, Nor Azimah, Ch’ng, Gaik-Siew, Ong, Winnie PeiTee, Chen, Bee-Chin, Hsu, Ho-Torng, Wong, Ke-Juin, Pitt, James, Ngu, Lock-Hock

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AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance von Chew, Hui Bein, Ong, Winnie Peitee, Haniffa, Muzhirah Aisha Md, Leong, Huey Yin, Krishnan, Thurga, Poh, Rozaida Yuen Ying, Thong, Meow Keong, Ishak, Mohd Taufik, Keng, Wee Teik

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AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome von Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik

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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 von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A, Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H, Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H, Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A, Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D, Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L, Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II von Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein

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