Etiology
Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C
Biomolecules
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
PMID: 38540691Free PMC Article
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,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
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,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
doi: 10.1093/brain/awae056.
PMID: 38456468Free PMC Article
Giacomini T,
Nuovo S,
Zanni G,
Mancardi MM,
Cusmai R,
Pepi C,
Bertini E,
Valente EM,
Battini R,
Ferrari A,
Romaniello R,
Zucca C,
Borgatti R,
Uccella S,
Severino M,
Striano P,
Pistorio A,
Prato G,
De Grandis E,
Nobili L,
Pisciotta L
Eur J Paediatr Neurol
2021 Mar;31:61-69.
Epub 2021 Feb 19
doi: 10.1016/j.ejpn.2021.02.006.
PMID: 33640666
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
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,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Diagnosis
Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C
Biomolecules
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
PMID: 38540691Free PMC Article
Alvarez C,
Grimmel M,
Ebrahimi-Fakhari D,
Paul VG,
Deininger N,
Riess A,
Haack T,
Gardella E,
Møller RS,
Bayat A
Clin Genet
2023 May;103(5):566-573.
Epub 2023 Jan 11
doi: 10.1111/cge.14275.
PMID: 36453471
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Kunii M,
Doi H,
Hashiguchi S,
Matsuishi T,
Sakai Y,
Iai M,
Okubo M,
Nakamura H,
Takahashi K,
Katsumoto A,
Tada M,
Takeuchi H,
Ishikawa T,
Miyake N,
Saitsu H,
Matsumoto N,
Tanaka F
J Neurol Sci
2020 Sep 15;416:117047.
Epub 2020 Jul 17
doi: 10.1016/j.jns.2020.117047.
PMID: 32736238
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Therapy
Kadali S,
Radhika A,
Kanaka Durga Devi YR,
Sreemanthula JB,
Palakonda G,
Hussain T,
Naushad SM
Clin Nutr ESPEN
2025 Feb;65:126-133.
Epub 2024 Nov 26
doi: 10.1016/j.clnesp.2024.11.027.
PMID: 39608496
Muthusamy K,
Perez-Ortiz JM,
Ligezka AN,
Altassan R,
Johnsen C,
Schultz MJ,
Patterson MC,
Morava E
Genet Med
2024 Feb;26(2):101027.
Epub 2023 Nov 10
doi: 10.1016/j.gim.2023.101027.
PMID: 37955240
García Segarra N,
Gautschi I,
Mittaz-Crettol L,
Kallay Zetchi C,
Al-Qusairi L,
Van Bemmelen MX,
Maeder P,
Bonafé L,
Schild L,
Roulet-Perez E
J Neurol Sci
2014 Jul 15;342(1-2):69-78.
Epub 2014 Apr 27
doi: 10.1016/j.jns.2014.04.027.
PMID: 24836863
Lamperti C,
Naini A,
Hirano M,
De Vivo DC,
Bertini E,
Servidei S,
Valeriani M,
Lynch D,
Banwell B,
Berg M,
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Chiriboga C,
Angelini C,
Pegoraro E,
DiMauro S
Neurology
2003 Apr 8;60(7):1206-8.
doi: 10.1212/01.wnl.0000055089.39373.fc.
PMID: 12682339
Vossler DG,
Lee JK,
Ko TS
J Child Neurol
1999 May;14(5):282-8.
doi: 10.1177/088307389901400503.
PMID: 10342594
Prognosis
Stoian A,
Bajko Z,
Bălașa R,
Andone S,
Stoian M,
Ormenișan I,
Muntean C,
Bănescu C
Biomolecules
2024 Feb 23;14(3)
doi: 10.3390/biom14030270.
PMID: 38540691Free PMC Article
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,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
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,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
doi: 10.1093/brain/awae056.
PMID: 38456468Free PMC Article
Phulpagar P,
Holla VV,
Tomar D,
Kamble N,
Yadav R,
Pal PK,
Muthusamy B
J Hum Genet
2023 Dec;68(12):859-866.
Epub 2023 Sep 26
doi: 10.1038/s10038-023-01195-5.
PMID: 37752213
Pavone P,
Pappalardo XG,
Ruggieri M,
Falsaperla R,
Parano E
Medicine (Baltimore)
2022 Aug 5;101(31):e29413.
doi: 10.1097/MD.0000000000029413.
PMID: 35945798Free PMC Article
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090
Clinical prediction guides
Hammann N,
Lenz D,
Bianzano A,
Husain RA,
Forman E,
Bernstein JA,
Dattner T,
Engelen M,
Hanson-Kahn AK,
Isidor B,
Kotzaeridou U,
Tietze A,
Trollmann R,
Weiß C,
Wolffenbuttel BHR,
Kölker S,
Hoffmann GF,
Crushell E,
Staufner C,
Mohr A,
Harting I
J Inherit Metab Dis
2024 Sep;47(5):1028-1046.
Epub 2024 Jul 1
doi: 10.1002/jimd.12764.
PMID: 38951950
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,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
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,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
doi: 10.1093/brain/awae056.
PMID: 38456468Free PMC Article
Phulpagar P,
Holla VV,
Tomar D,
Kamble N,
Yadav R,
Pal PK,
Muthusamy B
J Hum Genet
2023 Dec;68(12):859-866.
Epub 2023 Sep 26
doi: 10.1038/s10038-023-01195-5.
PMID: 37752213
Gur-Hartman T,
Berkowitz O,
Yosovich K,
Roubertie A,
Zanni G,
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,
Lev D,
Linder I,
Lerman-Sagie T,
Blumkin L
Eur J Paediatr Neurol
2021 Jan;30:144-154.
Epub 2020 Oct 20
doi: 10.1016/j.ejpn.2020.10.004.
PMID: 33349592
Claerhout H,
Witters P,
Régal L,
Jansen K,
Van Hoestenberghe MR,
Breckpot J,
Vermeersch P
J Inherit Metab Dis
2018 Jan;41(1):101-108.
Epub 2017 Oct 4
doi: 10.1007/s10545-017-0089-4.
PMID: 28980090