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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
Julia‐Palacios, Natalia Alexandra, Kuseyri Hübschmann, Oya, Olivella, Mireia, Pons, Roser, Horvath, Gabriella, Lücke, Thomas, Fung, Cheuk‐Wing, Wong, Suet‐Na, Cortès‐Saladelafont, Elisenda, Rovira‐Remisa, M. Mar, Yıldız, Yılmaz, Mercimek‐Andrews, Saadet, Assmann, Birgit, Stevanović, Galina, Manti, Filippo, Brennenstuhl, Heiko, Jung‐Klawitter, Sabine, Jeltsch, Kathrin, Sivri, H. Serap, Garbade, Sven F., García‐Cazorla, Àngels, Opladen, Thomas
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Yıldız, Yılmaz, Kuseyri Hübschmann, Oya, Akgöz Karaosmanoğlu, Ayça, Manti, Filippo, Karaca, Meryem, Schwartz, Ida Vanessa D., Pons, Roser, López‐Laso, Eduardo, Palacios, Natalia Alexandra Julia, Porta, Francesco, Kavecan, Ivana, Balcı, Mehmet Cihan, Dy‐Hollins, Marisela E., Wong, Suet‐Na, Oppebøen, Mari, Medeiros, Leonardo Simão, Paula, Leila Cristina Pedroso, García‐Cazorla, Angeles, Hoffmann, Georg F., Jeltsch, Kathrin, Leuzzi, Vincenzo, Gökçay, Gülden, Hübschmann, Daniel, Harting, Inga, Özön, Z. Alev, Sivri, Serap, Opladen, Thomas
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Journal Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Keller, Mareike, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Manti, Filippo, Julia Palacios, Natalia Alexandra, Friedman, Jennifer, Yıldız, Yılmaz, Koht, Jeanette Aimee, Wong, Suet‐Na, Zafeiriou, Dimitrios I., López‐Laso, Eduardo, Pons, Roser, Kulhánek, Jan, Jeltsch, Kathrin, Serrano‐Lomelin, Jesus, Garbade, Sven F., Opladen, Thomas, Goez, Helly, Burlina, Alberto, Cortès‐Saladelafont, Elisenda, Fernández Ramos, Joaquín Alejandro, García‐Cazorla, Angeles, Hoffmann, Georg F., Kiat Hong, Stacey Tay, Honzík, Tomáš, Kavecan, Ivana, Kurian, Manju A., Leuzzi, Vincenzo, Lücke, Thomas, Manzoni, Francesca, Mastrangelo, Mario, Mercimek‐Andrews, Saadet, Mir, Pablo, Oppebøen, Mari, Pearson, Toni S., Sivri, H. Serap, Steel, Dora, Stevanović, Galina, Fung, Cheuk‐Wing
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
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Journal Article
Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment
Lee, Jesse Zhen Cheng, Chow, Chit Kwong, Fung, Cheuk-Wing, Lui, Stephen Tak Yau, Wong, Suet-Na Sheila
Published in Molecular genetics and metabolism reports (01.06.2025)
Published in Molecular genetics and metabolism reports (01.06.2025)
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Journal Article
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing
Published in JIMD reports (01.07.2021)
Published in JIMD reports (01.07.2021)
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Journal Article
High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes
Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing
Published in Epilepsia open (01.12.2021)
Published in Epilepsia open (01.12.2021)
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Journal Article
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale
Chiu, Annie Ting Gee, Wong, Sheila Suet Na, Wong, Naomi Wing Tung, Wong, Wilfred Hing Sang, Tso, Winnie Wan Yee, Fung, Cheuk Wing
Published in Orphanet journal of rare diseases (02.09.2022)
Published in Orphanet journal of rare diseases (02.09.2022)
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Journal Article
Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong
Ho, Alvin Chi-chung, Chan, Sophelia Hoi-shan, Chan, Eric, Wong, Sheila Suet-na, Fung, Sharon Tsui-hang, Cherk, Sharon Wan-wah, Fung, Eva Lai-wah, Ma, Kam-hung, Tsui, Kwing-wan, Yau, Eric Kin-cheong, Wong, Virginia Chun-nei
Published in Brain & development (Tokyo. 1979) (01.06.2018)
Published in Brain & development (Tokyo. 1979) (01.06.2018)
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Journal Article
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified
Wong, Tsz Sum, Wong, Sheila Suet Na, Kwok, Anne Mei Kwun, Wu, Helen, Law, Hiu Fung, Lam, Shirley, Yeung, Matthew Chun Wing, Chan, Toby Chun Hei, Leung, Gordon, Mak, Chloe Miu, Belaramani, Kiran Moti, Fung, Cheuk Wing
Published in International journal of neonatal screening (01.12.2024)
Published in International journal of neonatal screening (01.12.2024)
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Journal Article
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
Wong, Sheila Suet-Na, Yuen, Liz Yuet-Ping, Kan, Elaine, Blau, Nenad, Rodenburg, Richard, Lam, Ching-wan, Wong, Virginia Chun-Nei, Mochel, Fanny, Wevers, Ron A., Fung, Cheuk-Wing
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis
Chui, Martin Man-Chun, Kwong, Anna Ka-Yee, Leung, Hiu Yu Cherie, Pang, Chingyiu, Scheller, Ines F., Wong, Sheila Suet-Na, Fung, Cheuk-Wing, Yépez, Vicente A., Gagneur, Julien, Mak, Christopher Chun-Yu, Chung, Brian Hon-Yin
Published in Npj genomic medicine (03.05.2025)
Published in Npj genomic medicine (03.05.2025)
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Journal Article
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Belaramani, Kiran Moti, Chan, Toby Chun Hei, Hau, Edgar Wai Lok, Yeung, Matthew Chun Wing, Kwok, Anne Mei Kwun, Lo, Ivan Fai Man, Law, Terry Hiu Fung, Wu, Helen, Wong, Sheila Suet Na, Lam, Shirley Wai, Ha, Gladys Ha Yin, Lau, Toby Pui Yee, Wong, Tsz Ki, Or, Venus Wai Ching, Wong, Rosanna Ming Sum, Ming, Wong Lap, Chow, Jasmine Chi Kwan, Yau, Eric Kin Cheong, Fu, Antony, Chong, Josephine Shuk Ching, Yau, Ho Chung, Poon, Grace Wing Kit, Ng, Kwok Leung, Chan, Kwong Tat, Lam, Yuen Yu, Hui, Joannie, Mak, Chloe Miu, Fung, Cheuk Wing
Published in International journal of neonatal screening (01.03.2024)
Published in International journal of neonatal screening (01.03.2024)
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Journal Article
Open-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases
Wong, Tsz Sum, Man, Emily, Wong, Ian Chi Kei, Li, Shirley Xue, Zhi, Hui, Yeung, Ka Man Carmen, Yip, Ka Yee, Kwong, Anna Ka Yee, Belaramani, Kiran Moti, Wong, Suet Na, Kwok, Anne Mei Kwun, Mak, Miu, Chan, Toby Chun Hei, Lau, Pui Yee, Kan, Yee Ling Elaine, Wong, Kwok Chun, Poon, Freddie, Kwok, Vansie, Li, Chun Yin Dick, Lau, Paul, Lam, Sze Man, Chu, Vanessa, Chan, Chi Fung Godfrey, Fung, Cheuk Wing
Published in Orphanet journal of rare diseases (06.06.2025)
Published in Orphanet journal of rare diseases (06.06.2025)
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Journal Article
O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis
Hon-Yin Chung, Brian, Yee Kwong, Anna Ka, Chun Chui, Martin Man, CY Mak, Christopher, Scheller, Ines, Suet-Na Wong, Sheila, Fung, Cheuk-Wing, Yépez, Vicente
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
Ling, Tsz-Ki, Wong, Ka-Chung, Chan, Candace Yim, Lau, Nike Kwai-Cheung, Law, Chun-yiu, Lee, Han-Chih Hencher, Lai, Chi-Kong, Chong, Yeow-Kuan, Yau, Kin-Cheong Eric, Cheung, Ka-Ming, Ko, Chun-Hung, Fung, Cheuk-wing, Lee, Lai-Ka, Wong, Sheila Suet-Na, Mak, Chloe M, Chan, Albert Yan-Wo, Tam, Sidney, Lam, Ching-wan
Published in Clinica chimica acta (01.10.2021)
Published in Clinica chimica acta (01.10.2021)
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Journal Article
Radboud Centre for Mitochondrial Medicine Pediatric MRI score
Wong, Sheila Suet-Na, Goraj, Bozena, Fung, Cheuk-Wing, Vister, Jeroen, de Boer, Lonneke, Koene, Saskia, Smeitink, Jan
Published in Mitochondrion (01.01.2017)
Published in Mitochondrion (01.01.2017)
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Journal Article
Erratum: Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate
Chow, Chit Kwong, Luk, Ho Ming, Wong, Suet Na
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2023)
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Journal Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate
Chow, Chit Kwong, Luk, Ho Ming, Wong, Suet Na
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2023)
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Journal Article
Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5′-Phosphate
Chow, Chit Kwong, Luk, Ho Ming, Wong, Suet Na
Published in Journal of pediatric genetics (Birmingham, Ala.) (08.10.2021)
Published in Journal of pediatric genetics (Birmingham, Ala.) (08.10.2021)
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Journal Article