Etiology
Odendaal C,
Jager EA,
Martines AMF,
Vieira-Lara MA,
Huijkman NCA,
Kiyuna LA,
Gerding A,
Wolters JC,
Heiner-Fokkema R,
van Eunen K,
Derks TGJ,
Bakker BM
BMC Biol
2023 Sep 4;21(1):184.
doi: 10.1186/s12915-023-01652-9.
PMID: 37667308Free PMC Article
Plantone D,
Pardini M,
Rinaldi G
Clin Drug Investig
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
PMID: 33886098
Missaglia S,
Tavian D,
Angelini C
Crit Rev Biochem Mol Biol
2021 Aug;56(4):360-372.
Epub 2021 Apr 7
doi: 10.1080/10409238.2021.1908952.
PMID: 33823724
Van Calcar SC,
Sowa M,
Rohr F,
Beazer J,
Setlock T,
Weihe TU,
Pendyal S,
Wallace LS,
Hansen JG,
Stembridge A,
Splett P,
Singh RH
Mol Genet Metab
2020 Sep-Oct;131(1-2):23-37.
Epub 2020 Oct 6
doi: 10.1016/j.ymgme.2020.10.001.
PMID: 33093005
Winter S,
Buist NR,
Longo N,
Armenian SH,
Lopaschuk G,
Wasilewska A
Ann Nutr Metab
2016;68 Suppl 3:21-23.
Epub 2016 Dec 9
doi: 10.1159/000448323.
PMID: 27931031
Diagnosis
Mason E,
Hindmarch CCT,
Dunham-Snary KJ
Endocrinol Diabetes Metab
2023 Jan;6(1):e385.
Epub 2022 Oct 27
doi: 10.1002/edm2.385.
PMID: 36300606Free PMC Article
Plantone D,
Pardini M,
Rinaldi G
Clin Drug Investig
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
PMID: 33886098
Nochi Z,
Olsen RKJ,
Gregersen N
J Inherit Metab Dis
2017 Sep;40(5):641-655.
Epub 2017 May 17
doi: 10.1007/s10545-017-0047-1.
PMID: 28516284
Miller MJ,
Burrage LC,
Gibson JB,
Strenk ME,
Lose EJ,
Bick DP,
Elsea SH,
Sutton VR,
Sun Q,
Graham BH,
Craigen WJ,
Zhang VW,
Wong LJ
Mol Genet Metab
2015 Nov;116(3):139-45.
Epub 2015 Sep 2
doi: 10.1016/j.ymgme.2015.08.011.
PMID: 26385305Free PMC Article
Wilcken B,
Wiley V
Pathology
2008 Feb;40(2):104-15.
doi: 10.1080/00313020701813743.
PMID: 18203033
Therapy
Mason E,
Hindmarch CCT,
Dunham-Snary KJ
Endocrinol Diabetes Metab
2023 Jan;6(1):e385.
Epub 2022 Oct 27
doi: 10.1002/edm2.385.
PMID: 36300606Free PMC Article
Plantone D,
Pardini M,
Rinaldi G
Clin Drug Investig
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
PMID: 33886098
Winter S,
Buist NR,
Longo N,
Armenian SH,
Lopaschuk G,
Wasilewska A
Ann Nutr Metab
2016;68 Suppl 3:21-23.
Epub 2016 Dec 9
doi: 10.1159/000448323.
PMID: 27931031
Wilcken B,
Wiley V
Pathology
2008 Feb;40(2):104-15.
doi: 10.1080/00313020701813743.
PMID: 18203033
Touma EH,
Charpentier C
Arch Dis Child
1992 Jan;67(1):142-5.
doi: 10.1136/adc.67.1.142.
PMID: 1739332Free PMC Article
Prognosis
Odendaal C,
Jager EA,
Martines AMF,
Vieira-Lara MA,
Huijkman NCA,
Kiyuna LA,
Gerding A,
Wolters JC,
Heiner-Fokkema R,
van Eunen K,
Derks TGJ,
Bakker BM
BMC Biol
2023 Sep 4;21(1):184.
doi: 10.1186/s12915-023-01652-9.
PMID: 37667308Free PMC Article
Mason E,
Hindmarch CCT,
Dunham-Snary KJ
Endocrinol Diabetes Metab
2023 Jan;6(1):e385.
Epub 2022 Oct 27
doi: 10.1002/edm2.385.
PMID: 36300606Free PMC Article
Feng J,
Yang C,
Zhu L,
Zhang Y,
Zhao X,
Chen C,
Chen QX,
Shu Q,
Jiang P,
Tong F
Orphanet J Rare Dis
2021 Sep 20;16(1):392.
doi: 10.1186/s13023-021-02018-6.
PMID: 34544473Free PMC Article
Plantone D,
Pardini M,
Rinaldi G
Clin Drug Investig
2021 Jun;41(6):513-527.
Epub 2021 Apr 22
doi: 10.1007/s40261-021-01038-1.
PMID: 33886098
Tucci S
J Inherit Metab Dis
2017 May;40(3):317-323.
Epub 2017 Feb 28
doi: 10.1007/s10545-017-0016-8.
PMID: 28247148
Clinical prediction guides
Odendaal C,
Jager EA,
Martines AMF,
Vieira-Lara MA,
Huijkman NCA,
Kiyuna LA,
Gerding A,
Wolters JC,
Heiner-Fokkema R,
van Eunen K,
Derks TGJ,
Bakker BM
BMC Biol
2023 Sep 4;21(1):184.
doi: 10.1186/s12915-023-01652-9.
PMID: 37667308Free PMC Article
Karunanidhi A,
Basu S,
Zhao XJ,
D'Annibale O,
Van't Land C,
Vockley J,
Mohsen AW
Mol Genet Metab
2023 Nov;140(3):107689.
Epub 2023 Aug 25
doi: 10.1016/j.ymgme.2023.107689.
PMID: 37660571Free PMC Article
Missaglia S,
Tavian D,
Angelini C
Crit Rev Biochem Mol Biol
2021 Aug;56(4):360-372.
Epub 2021 Apr 7
doi: 10.1080/10409238.2021.1908952.
PMID: 33823724
Desbats MA,
Lunardi G,
Doimo M,
Trevisson E,
Salviati L
J Inherit Metab Dis
2015 Jan;38(1):145-56.
Epub 2014 Aug 5
doi: 10.1007/s10545-014-9749-9.
PMID: 25091424
van Maldegem BT,
Wanders RJ,
Wijburg FA
J Inherit Metab Dis
2010 Oct;33(5):507-11.
Epub 2010 Apr 29
doi: 10.1007/s10545-010-9080-z.
PMID: 20429031Free PMC Article