Etiology
Vilaseca MA,
Cuartero ML,
Martinez de Salinas M,
Lambruschini N,
Pintó X,
Urreizti R,
Balcells S,
Grinberg D
J Inherit Metab Dis
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Levy HL,
Vargas JE,
Waisbren SE,
Kurczynski TW,
Roeder ER,
Schwartz RS,
Rosengren S,
Prasad C,
Greenberg CR,
Gilfix BM,
MacGregor D,
Shih VE,
Bao L,
Kraus JP
J Inherit Metab Dis
2002 Aug;25(4):299-314.
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PMID: 12227460
Yap S,
Rushe H,
Howard PM,
Naughten ER
J Inherit Metab Dis
2001 Aug;24(4):437-47.
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PMID: 11596648
Wilcken DE,
Wilcken B
Ann N Y Acad Sci
1998 Nov 20;854:361-70.
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Wilcken DE,
Wilcken B
J Inherit Metab Dis
1997 Jun;20(2):295-300.
doi: 10.1023/a:1005373209964.
PMID: 9211201
Diagnosis
Poloni S,
Sperb-Ludwig F,
Borsatto T,
Weber Hoss G,
Doriqui MJR,
Embiruçu EK,
Boa-Sorte N,
Marques C,
Kim CA,
Fischinger Moura de Souza C,
Rocha H,
Ribeiro M,
Steiner CE,
Moreno CA,
Bernardi P,
Valadares E,
Artigalas O,
Carvalho G,
Wanderley HYC,
Kugele J,
Walter M,
Gallego-Villar L,
Blom HJ,
Schwartz IVD
Mol Genet Genomic Med
2018 Mar;6(2):160-170.
Epub 2018 Jan 20
doi: 10.1002/mgg3.342.
PMID: 29352562Free PMC Article
Levy HL,
Vargas JE,
Waisbren SE,
Kurczynski TW,
Roeder ER,
Schwartz RS,
Rosengren S,
Prasad C,
Greenberg CR,
Gilfix BM,
MacGregor D,
Shih VE,
Bao L,
Kraus JP
J Inherit Metab Dis
2002 Aug;25(4):299-314.
doi: 10.1023/a:1016502408305.
PMID: 12227460
Yap S,
Rushe H,
Howard PM,
Naughten ER
J Inherit Metab Dis
2001 Aug;24(4):437-47.
doi: 10.1023/a:1010525528842.
PMID: 11596648
Yap S,
Naughten E
J Inherit Metab Dis
1998 Oct;21(7):738-47.
doi: 10.1023/a:1005445132327.
PMID: 9819703
Wilcken DE,
Wilcken B
J Inherit Metab Dis
1997 Jun;20(2):295-300.
doi: 10.1023/a:1005373209964.
PMID: 9211201
Therapy
Uygur E,
Aktuglu-Zeybek C,
Aghalarov M,
Cansever MS,
Kıykım E,
Zubarioglu T
Nutrients
2023 Jul 11;15(14)
doi: 10.3390/nu15143105.
PMID: 37513523Free PMC Article
Van Hove JLK,
Freehauf CL,
Ficicioglu C,
Pena LDM,
Moreau KL,
Henthorn TK,
Christians U,
Jiang H,
Cowan TM,
Young SP,
Hite M,
Friederich MW,
Stabler SP,
Spector EB,
Kronquist KE,
Thomas JA,
Emmett P,
Harrington MJ,
Pyle L,
Creadon-Swindell G,
Wempe MF,
MacLean KN
J Inherit Metab Dis
2019 May;42(3):424-437.
Epub 2019 Apr 11
doi: 10.1002/jimd.12085.
PMID: 30873612
Vilaseca MA,
Cuartero ML,
Martinez de Salinas M,
Lambruschini N,
Pintó X,
Urreizti R,
Balcells S,
Grinberg D
J Inherit Metab Dis
2004;27(6):775-7.
doi: 10.1023/b:boli.0000045840.18383.25.
PMID: 15617186
Wilcken DE,
Wilcken B
Ann N Y Acad Sci
1998 Nov 20;854:361-70.
doi: 10.1111/j.1749-6632.1998.tb09916.x.
PMID: 9928444
Hu FL,
Gu Z,
Kozich V,
Kraus JP,
Ramesh V,
Shih VE
Hum Mol Genet
1993 Nov;2(11):1857-60.
doi: 10.1093/hmg/2.11.1857.
PMID: 7506602
Prognosis
Poloni S,
Sperb-Ludwig F,
Borsatto T,
Weber Hoss G,
Doriqui MJR,
Embiruçu EK,
Boa-Sorte N,
Marques C,
Kim CA,
Fischinger Moura de Souza C,
Rocha H,
Ribeiro M,
Steiner CE,
Moreno CA,
Bernardi P,
Valadares E,
Artigalas O,
Carvalho G,
Wanderley HYC,
Kugele J,
Walter M,
Gallego-Villar L,
Blom HJ,
Schwartz IVD
Mol Genet Genomic Med
2018 Mar;6(2):160-170.
Epub 2018 Jan 20
doi: 10.1002/mgg3.342.
PMID: 29352562Free PMC Article
Sasai H,
Shimozawa N,
Asano T,
Kawamoto N,
Yamamoto T,
Kimura T,
Kawamoto M,
Matsui E,
Fukao T
Tohoku J Exp Med
2015 Dec;237(4):323-7.
doi: 10.1620/tjem.237.323.
PMID: 26639091
Wilcken DE,
Wilcken B
J Inherit Metab Dis
1997 Jun;20(2):295-300.
doi: 10.1023/a:1005373209964.
PMID: 9211201
Dawson PA,
Cox AJ,
Emmerson BT,
Dudman NP,
Kraus JP,
Gordon RB
Eur J Hum Genet
1997 Jan-Feb;5(1):15-21.
PMID: 9156316
Clinical prediction guides
Maclean KN,
Jiang H,
Phinney WN,
Keating AK,
Hurt KJ,
Stabler SP
FASEB J
2019 May;33(5):6339-6353.
Epub 2019 Feb 15
doi: 10.1096/fj.201802069RR.
PMID: 30768359
Levy HL,
Vargas JE,
Waisbren SE,
Kurczynski TW,
Roeder ER,
Schwartz RS,
Rosengren S,
Prasad C,
Greenberg CR,
Gilfix BM,
MacGregor D,
Shih VE,
Bao L,
Kraus JP
J Inherit Metab Dis
2002 Aug;25(4):299-314.
doi: 10.1023/a:1016502408305.
PMID: 12227460
Shih VE,
Fringer JM,
Mandell R,
Kraus JP,
Berry GT,
Heidenreich RA,
Korson MS,
Levy HL,
Ramesh V
Am J Hum Genet
1995 Jul;57(1):34-9.
PMID: 7611293Free PMC Article
Hu FL,
Gu Z,
Kozich V,
Kraus JP,
Ramesh V,
Shih VE
Hum Mol Genet
1993 Nov;2(11):1857-60.
doi: 10.1093/hmg/2.11.1857.
PMID: 7506602
Kang SS,
Wong PW,
Curley K
Pediatr Res
1982 May;16(5):370-2.
doi: 10.1203/00006450-198205000-00010.
PMID: 7099755