Etiology
Ribas GS,
Lopes FF,
Deon M,
Vargas CR
Cell Mol Neurobiol
2022 Nov;42(8):2593-2610.
Epub 2021 Oct 19
doi: 10.1007/s10571-021-01156-6.
PMID: 34665389
Barends M,
Pitt J,
Morrissy S,
Tzanakos N,
Boneh A;
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Mol Genet Metab
2014 Sep-Oct;113(1-2):46-52.
Epub 2014 Jul 11
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J Inherit Metab Dis
2013 Jul;36(4):635-44.
Epub 2013 Mar 20
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J Inherit Metab Dis
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Bremer HJ,
Rating D
Eur J Pediatr
1994;153(7 Suppl 1):S94-100.
doi: 10.1007/BF02138786.
PMID: 7957396
Diagnosis
Ribas GS,
Lopes FF,
Deon M,
Vargas CR
Cell Mol Neurobiol
2022 Nov;42(8):2593-2610.
Epub 2021 Oct 19
doi: 10.1007/s10571-021-01156-6.
PMID: 34665389
Wajner M
Nat Rev Neurol
2019 May;15(5):253-271.
doi: 10.1038/s41582-019-0161-9.
PMID: 30914790
Villani GR,
Gallo G,
Scolamiero E,
Salvatore F,
Ruoppolo M
Clin Exp Med
2017 Aug;17(3):305-323.
Epub 2016 Sep 9
doi: 10.1007/s10238-016-0435-0.
PMID: 27613073
Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR
Orphanet J Rare Dis
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
PMID: 22642865Free PMC Article
Barić I
J Inherit Metab Dis
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PMID: 18563631
Therapy
Valayannopoulos V,
Baruteau J,
Delgado MB,
Cano A,
Couce ML,
Del Toro M,
Donati MA,
Garcia-Cazorla A,
Gil-Ortega D,
Gomez-de Quero P,
Guffon N,
Hofstede FC,
Kalkan-Ucar S,
Coker M,
Lama-More R,
Martinez-Pardo Casanova M,
Molina A,
Pichard S,
Papadia F,
Rosello P,
Plisson C,
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Chakrapani A
Orphanet J Rare Dis
2016 Mar 31;11:32.
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PMID: 27030250Free PMC Article
Badve MS,
Bhuta S,
Mcgill J
N Z Med J
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PMID: 25721963
Chuang DT,
Chuang JL,
Wynn RM
J Nutr
2006 Jan;136(1 Suppl):243S-9S.
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PMID: 16365091
Worthen HG,
al Ashwal A,
Ozand PT,
Garawi S,
Rahbeeni Z,
al Odaib A,
Subramanyam SB,
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Brain Dev
1994 Nov;16 Suppl:81-5.
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PMID: 7726385
Suormala TM,
Baumgartner ER,
Wick H,
Scheibenreiter S,
Schweitzer S
J Inherit Metab Dis
1990;13(1):76-92.
doi: 10.1007/BF01799335.
PMID: 2109151
Prognosis
Wajner M
Nat Rev Neurol
2019 May;15(5):253-271.
doi: 10.1038/s41582-019-0161-9.
PMID: 30914790
Villani GR,
Gallo G,
Scolamiero E,
Salvatore F,
Ruoppolo M
Clin Exp Med
2017 Aug;17(3):305-323.
Epub 2016 Sep 9
doi: 10.1007/s10238-016-0435-0.
PMID: 27613073
Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR
Orphanet J Rare Dis
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
PMID: 22642865Free PMC Article
Dionisi-Vici C,
Deodato F,
Röschinger W,
Rhead W,
Wilcken B
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):383-9.
doi: 10.1007/s10545-006-0278-z.
PMID: 16763906
Hoffmann GF,
Gibson KM,
Trefz FK,
Nyhan WL,
Bremer HJ,
Rating D
Eur J Pediatr
1994;153(7 Suppl 1):S94-100.
doi: 10.1007/BF02138786.
PMID: 7957396
Clinical prediction guides
Kölker S,
Valayannopoulos V,
Burlina AB,
Sykut-Cegielska J,
Wijburg FA,
Teles EL,
Zeman J,
Dionisi-Vici C,
Barić I,
Karall D,
Arnoux JB,
Avram P,
Baumgartner MR,
Blasco-Alonso J,
Boy SP,
Rasmussen MB,
Burgard P,
Chabrol B,
Chakrapani A,
Chapman K,
Cortès I Saladelafont E,
Couce ML,
de Meirleir L,
Dobbelaere D,
Furlan F,
Gleich F,
González MJ,
Gradowska W,
Grünewald S,
Honzik T,
Hörster F,
Ioannou H,
Jalan A,
Häberle J,
Haege G,
Langereis E,
de Lonlay P,
Martinelli D,
Matsumoto S,
Mühlhausen C,
Murphy E,
de Baulny HO,
Ortez C,
Pedrón CC,
Pintos-Morell G,
Pena-Quintana L,
Ramadža DP,
Rodrigues E,
Scholl-Bürgi S,
Sokal E,
Summar ML,
Thompson N,
Vara R,
Pinera IV,
Walter JH,
Williams M,
Lund AM,
Garcia-Cazorla A
J Inherit Metab Dis
2015 Nov;38(6):1059-74.
Epub 2015 Apr 15
doi: 10.1007/s10545-015-9840-x.
PMID: 25875216
Barends M,
Pitt J,
Morrissy S,
Tzanakos N,
Boneh A;
Newborn Screening Laboratory Staff
Mol Genet Metab
2014 Sep-Oct;113(1-2):46-52.
Epub 2014 Jul 11
doi: 10.1016/j.ymgme.2014.07.003.
PMID: 25047749
Kölker S,
Burgard P,
Sauer SW,
Okun JG
J Inherit Metab Dis
2013 Jul;36(4):635-44.
Epub 2013 Mar 20
doi: 10.1007/s10545-013-9600-8.
PMID: 23512157
Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR
Orphanet J Rare Dis
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
PMID: 22642865Free PMC Article
Dionisi-Vici C,
Deodato F,
Röschinger W,
Rhead W,
Wilcken B
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):383-9.
doi: 10.1007/s10545-006-0278-z.
PMID: 16763906