Etiology
Poeta M,
Moracas C,
Calò Carducci FI,
Cafagno C,
Buonsenso D,
Maglione M,
Sgubbi S,
Liberati C,
Venturini E,
Limongelli G,
Nunziata F,
Petrarca L,
Mandato C,
Colomba C,
Guarino A;
Pediatric INF-ACT Network Study Group;
Collaborators of the Paediatric INF-ACT Network Study Group
Euro Surveill
2024 Nov;29(48)
doi: 10.2807/1560-7917.ES.2024.29.48.2400746.
PMID: 39611212Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci
2004 Winter;34(1):15-34.
PMID: 15038665
Freisinger P,
Horvath R,
Macmillan C,
Peters J,
Jaksch M
J Inherit Metab Dis
2004;27(1):67-79.
doi: 10.1023/B:BOLI.0000016614.47380.2f.
PMID: 14970747
Robinson BH
Pediatr Res
2000 Nov;48(5):581-5.
doi: 10.1203/00006450-200011000-00004.
PMID: 11044474
Loeffen JL,
Smeitink JA,
Trijbels JM,
Janssen AJ,
Triepels RH,
Sengers RC,
van den Heuvel LP
Hum Mutat
2000;15(2):123-34.
doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P.
PMID: 10649489
Diagnosis
Poeta M,
Moracas C,
Calò Carducci FI,
Cafagno C,
Buonsenso D,
Maglione M,
Sgubbi S,
Liberati C,
Venturini E,
Limongelli G,
Nunziata F,
Petrarca L,
Mandato C,
Colomba C,
Guarino A;
Pediatric INF-ACT Network Study Group;
Collaborators of the Paediatric INF-ACT Network Study Group
Euro Surveill
2024 Nov;29(48)
doi: 10.2807/1560-7917.ES.2024.29.48.2400746.
PMID: 39611212Free PMC Article
Dedeoglu S,
Dede E,
Oztunc F,
Gedikbasi A,
Yesil G,
Dedeoglu R
Orphanet J Rare Dis
2022 Sep 15;17(1):359.
doi: 10.1186/s13023-022-02483-7.
PMID: 36109815Free PMC Article
Finsterer J,
Stöllberger C
Pediatr Neurol
2015 Dec;53(6):473-7.
Epub 2015 Aug 28
doi: 10.1016/j.pediatrneurol.2015.08.014.
PMID: 26507755
Alfadhel M,
Lillquist YP,
Waters PJ,
Sinclair G,
Struys E,
McFadden D,
Hendson G,
Hyams L,
Shoffner J,
Vallance HD
Am J Med Genet A
2011 Apr;155A(4):840-4.
Epub 2011 Mar 15
doi: 10.1002/ajmg.a.33881.
PMID: 21412973
Inwald DP,
Yen Ho S,
Shepherd MN,
Daubeney PE
Arch Dis Child
2006 Nov;91(11):928.
doi: 10.1136/adc.2006.103093.
PMID: 17056867Free PMC Article
Therapy
Poeta M,
Moracas C,
Calò Carducci FI,
Cafagno C,
Buonsenso D,
Maglione M,
Sgubbi S,
Liberati C,
Venturini E,
Limongelli G,
Nunziata F,
Petrarca L,
Mandato C,
Colomba C,
Guarino A;
Pediatric INF-ACT Network Study Group;
Collaborators of the Paediatric INF-ACT Network Study Group
Euro Surveill
2024 Nov;29(48)
doi: 10.2807/1560-7917.ES.2024.29.48.2400746.
PMID: 39611212Free PMC Article
Hordeaux J,
Dubreil L,
Robveille C,
Deniaud J,
Pascal Q,
Dequéant B,
Pailloux J,
Lagalice L,
Ledevin M,
Babarit C,
Costiou P,
Jamme F,
Fusellier M,
Mallem Y,
Ciron C,
Huchet C,
Caillaud C,
Colle MA
Acta Neuropathol Commun
2017 Sep 6;5(1):66.
doi: 10.1186/s40478-017-0464-2.
PMID: 28874182Free PMC Article
Glatz AC,
Pawel BR,
Hsu DT,
Weinberg P,
Chrisant MR
Pediatr Transplant
2006 Mar;10(2):225-33.
doi: 10.1111/j.1399-3046.2005.00414.x.
PMID: 16573612
Freisinger P,
Horvath R,
Macmillan C,
Peters J,
Jaksch M
J Inherit Metab Dis
2004;27(1):67-79.
doi: 10.1023/B:BOLI.0000016614.47380.2f.
PMID: 14970747
Ibdah JA,
Dasouki MJ,
Strauss AW
J Inherit Metab Dis
1999 Oct;22(7):811-4.
doi: 10.1023/a:1005506024055.
PMID: 10518281
Prognosis
Tamamitsu AM,
Nakagama Y,
Domoto Y,
Yoshida K,
Ogawa S,
Hirono K,
Shindo T,
Ogawa Y,
Nakano K,
Asakai H,
Hirata Y,
Matsui H,
Inuzuka R
Int Heart J
2021 Mar 30;62(2):445-447.
Epub 2021 Mar 17
doi: 10.1536/ihj.20-639.
PMID: 33731536
Schaffer LR,
Caltharp SA,
Milla SS,
Kogon BF,
Cundiff CA,
Dalal A,
Quigley PC,
Shehata BM
Cardiovasc Pathol
2016 Jan-Feb;25(1):72-7.
Epub 2015 Aug 31
doi: 10.1016/j.carpath.2015.08.011.
PMID: 26419627
Inwald DP,
Yen Ho S,
Shepherd MN,
Daubeney PE
Arch Dis Child
2006 Nov;91(11):928.
doi: 10.1136/adc.2006.103093.
PMID: 17056867Free PMC Article
Glatz AC,
Pawel BR,
Hsu DT,
Weinberg P,
Chrisant MR
Pediatr Transplant
2006 Mar;10(2):225-33.
doi: 10.1111/j.1399-3046.2005.00414.x.
PMID: 16573612
Elleder M,
Shin YS,
Zuntová A,
Vojtovic P,
Chalupecký V
Virchows Arch A Pathol Anat Histopathol
1993;423(4):303-7.
doi: 10.1007/BF01606895.
PMID: 8236826
Clinical prediction guides
Dedeoglu S,
Dede E,
Oztunc F,
Gedikbasi A,
Yesil G,
Dedeoglu R
Orphanet J Rare Dis
2022 Sep 15;17(1):359.
doi: 10.1186/s13023-022-02483-7.
PMID: 36109815Free PMC Article
Spiegel R,
Saada A,
Flannery PJ,
Burté F,
Soiferman D,
Khayat M,
Eisner V,
Vladovski E,
Taylor RW,
Bindoff LA,
Shaag A,
Mandel H,
Schuler-Furman O,
Shalev SA,
Elpeleg O,
Yu-Wai-Man P
J Med Genet
2016 Feb;53(2):127-31.
Epub 2015 Nov 11
doi: 10.1136/jmedgenet-2015-103361.
PMID: 26561570Free PMC Article
Leary SC,
Antonicka H,
Sasarman F,
Weraarpachai W,
Cobine PA,
Pan M,
Brown GK,
Brown R,
Majewski J,
Ha KC,
Rahman S,
Shoubridge EA
Hum Mutat
2013 Oct;34(10):1366-70.
Epub 2013 Aug 12
doi: 10.1002/humu.22385.
PMID: 23878101
Tomari Y,
Hino N,
Nagaike T,
Suzuki T,
Ueda T
J Biol Chem
2003 May 9;278(19):16828-33.
Epub 2003 Mar 5
doi: 10.1074/jbc.M213216200.
PMID: 12621050
Loeffen JL,
Smeitink JA,
Trijbels JM,
Janssen AJ,
Triepels RH,
Sengers RC,
van den Heuvel LP
Hum Mutat
2000;15(2):123-34.
doi: 10.1002/(SICI)1098-1004(200002)15:2<123::AID-HUMU1>3.0.CO;2-P.
PMID: 10649489