Mitochondrial disorders in children: toward development of small‐molecule treatment strategies von Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome von Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency von 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

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Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry von 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

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Exome sequencing in paediatric patients with movement disorders von Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J. T., Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency von Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing

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ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV von Kwong, Anna Ka-Yee, Chu, Vanessa Loi-Yan, Rodenburg, Richard J.T., Smeitink, Jan, Fung, Cheuk-Wing

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Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy von Kwong, Anna Ka-Yee, Ho, Alvin Chi-Chung, Fung, Cheuk-Wing, Wong, Virginia Chun-Nei

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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency von Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing

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Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome von Kwong, Anna Ka-Yee, Fung, Cheuk-Wing, Chan, Siu-Yuen, Wong, Virginia Chun-Nei

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese von Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M. L., Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J. T., Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk‐Wing, Chung, Brian Hon-Yin

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers von 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

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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population von Tsang, Mandy H. Y., Kwong, Anna K. Y., Chan, Kate L. S., Fung, Jasmine L. F., Yu, Mullin H. C., Mak, Christopher C. Y., Yeung, Kit-San, Rodenburg, Richard J. T., Smeitink, Jan A. M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S. N., Tai, Shuk-Mui, Chan, Victor C. M., Ma, Che-Kwan, Fung, Sharon T. H., Wu, Shun-Ping, Chak, W. K., Chung, Brian H. Y., Fung, Cheuk-Wing

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Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders von Münch, Juliane, Prasuhn, Jannik, Laugwitz, Lucia, Fung, Cheuk-Wing, Chung, Brian H.-Y., Bellusci, Marcello, Mayatepek, Ertan, Klee, Dirk, Distelmaier, Felix

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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes von Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing

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Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy von Fung, Cheuk-Wing, Kwong, Anna Ka-Yee, Wong, Virginia Chun-Nei

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Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy von Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin

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International Paediatric Mitochondrial Disease Scale von Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.

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Folinic Acid Responsive Epilepsy in Ohtahara Syndrome Caused by STXBP1 Mutation von Tso, Winnie W.Y., MRCPCh, Kwong, Anna K.Y., PhD, Fung, Cheuk Wing, FKHAM, Wong, Virginia C.N., FRCP

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Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary von Tsang, Jane Pui Ki, MBBS, Poon, Wai Lun, MBBS, MPH, Luk, Ho Ming, MBBS, Fung, Cheuk Wing, MBBS, Ching, Chor Kwan, MSc, MBChB, Mak, Chloe Miu, MBBS, PhD, Lam, Ching Wan, MBChB, PhD, Siu, Tak Shing, MPhil, Tam, Sidney, MBBS, Wong, Virginia C.N., MBBS

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