Etiology
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Prabhu SP,
Lichtenbelt K,
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D'Arco F,
Wakeling E,
Jones W,
Hay E,
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Jacques TS,
Mirsky DM,
Whitehead MT,
Zaki MS,
Sultan T,
Striano P,
Jansen AC,
Lequin M,
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Humbertclaude V,
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Nissenkorn A,
Nicita F,
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J Inherit Metab Dis
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Diagnosis
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Sidpra J,
Sudhakar S,
Biswas A,
Massey F,
Turchetti V,
Lau T,
Cook E,
Alvi JR,
Elbendary HM,
Jewell JL,
Riva A,
Orsini A,
Vignoli A,
Federico Z,
Rosenblum J,
Schoonjans AS,
de Wachter M,
Delgado Alvarez I,
Felipe-Rucián A,
Haridy NA,
Haider S,
Zaman M,
Banu S,
Anwaar N,
Rahman F,
Maqbool S,
Yadav R,
Salpietro V,
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Patel R,
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Murakami Y,
Löbel U,
D'Arco F,
Wakeling E,
Jones W,
Hay E,
Bhate S,
Jacques TS,
Mirsky DM,
Whitehead MT,
Zaki MS,
Sultan T,
Striano P,
Jansen AC,
Lequin M,
de Vries LS,
Severino M,
Edmondson AC,
Menzies L,
Campeau PM,
Houlden H,
McTague A,
Efthymiou S,
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2024 Aug 1;147(8):2775-2790.
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Sudhakar S,
Biswas A,
Massey F,
Turchetti V,
Lau T,
Cook E,
Alvi JR,
Elbendary HM,
Jewell JL,
Riva A,
Orsini A,
Vignoli A,
Federico Z,
Rosenblum J,
Schoonjans AS,
de Wachter M,
Delgado Alvarez I,
Felipe-Rucián A,
Haridy NA,
Haider S,
Zaman M,
Banu S,
Anwaar N,
Rahman F,
Maqbool S,
Yadav R,
Salpietro V,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
Murakami Y,
Löbel U,
D'Arco F,
Wakeling E,
Jones W,
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Bhate S,
Jacques TS,
Mirsky DM,
Whitehead MT,
Zaki MS,
Sultan T,
Striano P,
Jansen AC,
Lequin M,
de Vries LS,
Severino M,
Edmondson AC,
Menzies L,
Campeau PM,
Houlden H,
McTague A,
Efthymiou S,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
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PMID: 38456468Free PMC Article
Phulpagar P,
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Gur-Hartman T,
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Roubertie A,
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Macaya A,
Heimer G,
Dueñas BP,
Sival DA,
Pode-Shakked B,
López-Laso E,
Humbertclaude V,
Riant F,
Bosco L,
Cayron LB,
Nissenkorn A,
Nicita F,
Bertini E,
Hassin S,
Ben Zeev B,
Zerem A,
Libzon S,
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Linder I,
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Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
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Claerhout H,
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