Etiology
De Feyter S,
Beyens A,
Callewaert B
J Inherit Metab Dis
2023 Mar;46(2):163-173.
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Albersen M,
van der Beek SL,
Dijkstra IME,
Alders M,
Barendsen RW,
Bliek J,
Boelen A,
Ebberink MS,
Ferdinandusse S,
Goorden SMI,
Heijboer AC,
Jansen M,
Jaspers YRJ,
Metgod I,
Salomons GS,
Vaz FM,
Verschoof-Puite RK,
Visser WF,
Dekkers E,
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J Inherit Metab Dis
2023 Jan;46(1):116-128.
Epub 2022 Oct 26
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Iskandar K,
Triono A,
Sunartini,
Dwianingsih EK,
Indraswari BW,
Kirana IR,
Ivana G,
Sutomo R,
Patria SY,
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Gunadi
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2022;17(10):e0276640.
Epub 2022 Oct 31
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van Geest FS,
Groeneweg S,
van den Akker ELT,
Bacos I,
Barca D,
van den Berg SAA,
Bertini E,
Brunner D,
Brunetti-Pierri N,
Cappa M,
Cappuccio G,
Chatterjee K,
Chesover AD,
Christian P,
Coutant R,
Craiu D,
Crock P,
Dewey C,
Dica A,
Dimitri P,
Dubey R,
Enderli A,
Fairchild J,
Gallichan J,
Garibaldi LR,
George B,
Hackenberg A,
Heinrich B,
Huynh T,
Kłosowska A,
Lawson-Yuen A,
Linder-Lucht M,
Lyons G,
Monti Lora F,
Moran C,
Müller KE,
Paone L,
Paul PG,
Polak M,
Porta F,
Reinauer C,
de Rijke YB,
Seckold R,
Menevşe TS,
Simm P,
Simon A,
Spada M,
Stoupa A,
Szeifert L,
Tonduti D,
van Toor H,
Turan S,
Vanderniet J,
de Waart M,
van der Wal R,
van der Walt A,
van Wermeskerken AM,
Wierzba J,
Zibordi F,
Zung A,
Peeters RP,
Visser WE
J Clin Endocrinol Metab
2022 Feb 17;107(3):e1136-e1147.
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Liberato AP,
Mallack EJ,
Aziz-Bose R,
Hayden D,
Lauer A,
Caruso PA,
Musolino PL,
Eichler FS
Neurology
2019 Apr 9;92(15):e1698-e1708.
Epub 2019 Mar 22
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PMID: 30902905Free PMC Article
Diagnosis
De Feyter S,
Beyens A,
Callewaert B
J Inherit Metab Dis
2023 Mar;46(2):163-173.
Epub 2023 Feb 3
doi: 10.1002/jimd.12590.
PMID: 36692329
Albersen M,
van der Beek SL,
Dijkstra IME,
Alders M,
Barendsen RW,
Bliek J,
Boelen A,
Ebberink MS,
Ferdinandusse S,
Goorden SMI,
Heijboer AC,
Jansen M,
Jaspers YRJ,
Metgod I,
Salomons GS,
Vaz FM,
Verschoof-Puite RK,
Visser WF,
Dekkers E,
Engelen M,
Kemp S
J Inherit Metab Dis
2023 Jan;46(1):116-128.
Epub 2022 Oct 26
doi: 10.1002/jimd.12571.
PMID: 36256460Free PMC Article
Liberato AP,
Mallack EJ,
Aziz-Bose R,
Hayden D,
Lauer A,
Caruso PA,
Musolino PL,
Eichler FS
Neurology
2019 Apr 9;92(15):e1698-e1708.
Epub 2019 Mar 22
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PMID: 30902905Free PMC Article
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van Geest FS,
Groeneweg S,
van den Akker ELT,
Bacos I,
Barca D,
van den Berg SAA,
Bertini E,
Brunner D,
Brunetti-Pierri N,
Cappa M,
Cappuccio G,
Chatterjee K,
Chesover AD,
Christian P,
Coutant R,
Craiu D,
Crock P,
Dewey C,
Dica A,
Dimitri P,
Dubey R,
Enderli A,
Fairchild J,
Gallichan J,
Garibaldi LR,
George B,
Hackenberg A,
Heinrich B,
Huynh T,
Kłosowska A,
Lawson-Yuen A,
Linder-Lucht M,
Lyons G,
Monti Lora F,
Moran C,
Müller KE,
Paone L,
Paul PG,
Polak M,
Porta F,
Reinauer C,
de Rijke YB,
Seckold R,
Menevşe TS,
Simm P,
Simon A,
Spada M,
Stoupa A,
Szeifert L,
Tonduti D,
van Toor H,
Turan S,
Vanderniet J,
de Waart M,
van der Wal R,
van der Walt A,
van Wermeskerken AM,
Wierzba J,
Zibordi F,
Zung A,
Peeters RP,
Visser WE
J Clin Endocrinol Metab
2022 Feb 17;107(3):e1136-e1147.
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PMID: 34679181Free PMC Article
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Acta Neurol Belg
2023 Dec;123(6):2259-2268.
Epub 2023 May 29
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PMID: 37247117
De Feyter S,
Beyens A,
Callewaert B
J Inherit Metab Dis
2023 Mar;46(2):163-173.
Epub 2023 Feb 3
doi: 10.1002/jimd.12590.
PMID: 36692329
Pierpont EI,
Isaia AR,
McCoy E,
Brown SJ,
Gupta AO,
Eisengart JB
J Inherit Metab Dis
2023 Mar;46(2):174-193.
Epub 2022 Dec 26
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PMID: 36527290Free PMC Article
van Geest FS,
Groeneweg S,
van den Akker ELT,
Bacos I,
Barca D,
van den Berg SAA,
Bertini E,
Brunner D,
Brunetti-Pierri N,
Cappa M,
Cappuccio G,
Chatterjee K,
Chesover AD,
Christian P,
Coutant R,
Craiu D,
Crock P,
Dewey C,
Dica A,
Dimitri P,
Dubey R,
Enderli A,
Fairchild J,
Gallichan J,
Garibaldi LR,
George B,
Hackenberg A,
Heinrich B,
Huynh T,
Kłosowska A,
Lawson-Yuen A,
Linder-Lucht M,
Lyons G,
Monti Lora F,
Moran C,
Müller KE,
Paone L,
Paul PG,
Polak M,
Porta F,
Reinauer C,
de Rijke YB,
Seckold R,
Menevşe TS,
Simm P,
Simon A,
Spada M,
Stoupa A,
Szeifert L,
Tonduti D,
van Toor H,
Turan S,
Vanderniet J,
de Waart M,
van der Wal R,
van der Walt A,
van Wermeskerken AM,
Wierzba J,
Zibordi F,
Zung A,
Peeters RP,
Visser WE
J Clin Endocrinol Metab
2022 Feb 17;107(3):e1136-e1147.
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PMID: 34679181Free PMC Article
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Xu F,
Huang H,
Shen Q,
Bao Y,
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Liu L,
Xu Y
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2025 Jan;46(1):437-444.
Epub 2024 Jul 6
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De Feyter S,
Beyens A,
Callewaert B
J Inherit Metab Dis
2023 Mar;46(2):163-173.
Epub 2023 Feb 3
doi: 10.1002/jimd.12590.
PMID: 36692329
Pierpont EI,
Isaia AR,
McCoy E,
Brown SJ,
Gupta AO,
Eisengart JB
J Inherit Metab Dis
2023 Mar;46(2):174-193.
Epub 2022 Dec 26
doi: 10.1002/jimd.12581.
PMID: 36527290Free PMC Article
Iskandar K,
Triono A,
Sunartini,
Dwianingsih EK,
Indraswari BW,
Kirana IR,
Ivana G,
Sutomo R,
Patria SY,
Herini ES,
Gunadi
PLoS One
2022;17(10):e0276640.
Epub 2022 Oct 31
doi: 10.1371/journal.pone.0276640.
PMID: 36315559Free PMC Article
Liberato AP,
Mallack EJ,
Aziz-Bose R,
Hayden D,
Lauer A,
Caruso PA,
Musolino PL,
Eichler FS
Neurology
2019 Apr 9;92(15):e1698-e1708.
Epub 2019 Mar 22
doi: 10.1212/WNL.0000000000007294.
PMID: 30902905Free PMC Article