Etiology
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Diagnosis
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Tseng LA,
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Ashmore C,
Boemer F,
Bok LA,
Boyer M,
Buhas D,
Clayton PT,
Das A,
Dekker H,
Evangeliou A,
Feillet F,
Footitt EJ,
Gospe SM Jr,
Hartmann H,
Kara M,
Kristensen E,
Lee J,
Lilje R,
Longo N,
Lunsing RJ,
Mills P,
Papadopoulou MT,
Pearl PL,
Piazzon F,
Plecko B,
Saini AG,
Santra S,
Sjarif DR,
Stockler-Ipsiroglu S,
Striano P,
Van Hove JLK,
Verhoeven-Duif NM,
Wijburg FA,
Zuberi SM,
van Karnebeek CDM
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Therapy
Coughlin CR 2nd,
Tseng LA,
Abdenur JE,
Ashmore C,
Boemer F,
Bok LA,
Boyer M,
Buhas D,
Clayton PT,
Das A,
Dekker H,
Evangeliou A,
Feillet F,
Footitt EJ,
Gospe SM Jr,
Hartmann H,
Kara M,
Kristensen E,
Lee J,
Lilje R,
Longo N,
Lunsing RJ,
Mills P,
Papadopoulou MT,
Pearl PL,
Piazzon F,
Plecko B,
Saini AG,
Santra S,
Sjarif DR,
Stockler-Ipsiroglu S,
Striano P,
Van Hove JLK,
Verhoeven-Duif NM,
Wijburg FA,
Zuberi SM,
van Karnebeek CDM
J Inherit Metab Dis
2021 Jan;44(1):178-192.
Epub 2020 Dec 1
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PMID: 33200442
Wilson MP,
Plecko B,
Mills PB,
Clayton PT
J Inherit Metab Dis
2019 Jul;42(4):629-646.
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Nelson LB,
Maumenee IH
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1982 Nov-Dec;27(3):143-60.
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PMID: 6984233
Prognosis
Whyte MP
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2017 Sep;102:15-25.
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Painter MJ,
Bergman I,
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Pediatr Clin North Am
1986 Feb;33(1):91-109.
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Clinical prediction guides
Korasick DA,
Tanner JJ
Biochimie
2021 Apr;183:49-54.
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Pope S,
Artuch R,
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Rahman S
J Inherit Metab Dis
2019 Jul;42(4):655-672.
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Groothoff J
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Painter MJ,
Bergman I,
Crumrine P
Pediatr Clin North Am
1986 Feb;33(1):91-109.
doi: 10.1016/s0031-3955(16)34971-9.
PMID: 3513103