Etiology
Hörster F,
Tuncel AT,
Gleich F,
Plessl T,
Froese SD,
Garbade SF,
Kölker S,
Baumgartner MR;
Additional Contributors from E-IMD
J Inherit Metab Dis
2021 Jan;44(1):193-214.
Epub 2020 Sep 15
doi: 10.1002/jimd.12297.
PMID: 32754920
Kožich V,
Stabler S
J Nutr
2020 Oct 1;150(Suppl 1):2506S-2517S.
doi: 10.1093/jn/nxaa134.
PMID: 33000152
Peng L,
Dreumont N,
Coelho D,
Guéant JL,
Arnold C
Biochimie
2016 Jul;126:43-51.
Epub 2016 May 10
doi: 10.1016/j.biochi.2016.05.007.
PMID: 27178438
Whitehead VM
Br J Haematol
2006 Jul;134(2):125-36.
doi: 10.1111/j.1365-2141.2006.06133.x.
PMID: 16846473
Fowler B
Eur J Pediatr
1998 Apr;157 Suppl 2:S60-6.
doi: 10.1007/pl00014306.
PMID: 9587028
Diagnosis
Yahyaoui R,
Blasco-Alonso J,
Gonzalo-Marín M,
Benito C,
Serrano-Nieto J,
González-Gallego I,
Ruiz-Sala P,
Pérez B,
González-Lamuño D
Genes (Basel)
2020 Aug 29;11(9)
doi: 10.3390/genes11091018.
PMID: 32872442Free PMC Article
Green R,
Datta Mitra A
Med Clin North Am
2017 Mar;101(2):297-317.
Epub 2016 Dec 14
doi: 10.1016/j.mcna.2016.09.013.
PMID: 28189172
Watkins D,
Rosenblatt DS
Am J Med Genet C Semin Med Genet
2011 Feb 15;157C(1):33-44.
Epub 2011 Feb 10
doi: 10.1002/ajmg.c.30288.
PMID: 21312325
Whitehead VM
Br J Haematol
2006 Jul;134(2):125-36.
doi: 10.1111/j.1365-2141.2006.06133.x.
PMID: 16846473
Linnell JC,
Bhatt HR
Baillieres Clin Haematol
1995 Sep;8(3):567-601.
doi: 10.1016/s0950-3536(05)80221-5.
PMID: 8534962
Therapy
Rigaudière F,
Nasser H,
Delouvrier E,
Milani P,
Schiff M
Doc Ophthalmol
2022 Feb;144(1):53-65.
Epub 2021 Sep 7
doi: 10.1007/s10633-021-09849-5.
PMID: 34491492
Armour CM,
Brebner A,
Watkins D,
Geraghty MT,
Chan A,
Rosenblatt DS
Pediatrics
2013 Jul;132(1):e257-61.
Epub 2013 Jun 17
doi: 10.1542/peds.2013-0105.
PMID: 23776111
Baumgartner MR
Handb Clin Neurol
2013;113:1799-810.
doi: 10.1016/B978-0-444-59565-2.00049-6.
PMID: 23622402
Linnell JC,
Bhatt HR
Baillieres Clin Haematol
1995 Sep;8(3):567-601.
doi: 10.1016/s0950-3536(05)80221-5.
PMID: 8534962
Davis RE
Adv Clin Chem
1985;24:163-216.
doi: 10.1016/s0065-2423(08)60273-5.
PMID: 3911750
Prognosis
Rigaudière F,
Nasser H,
Delouvrier E,
Milani P,
Schiff M
Doc Ophthalmol
2022 Feb;144(1):53-65.
Epub 2021 Sep 7
doi: 10.1007/s10633-021-09849-5.
PMID: 34491492
Hörster F,
Tuncel AT,
Gleich F,
Plessl T,
Froese SD,
Garbade SF,
Kölker S,
Baumgartner MR;
Additional Contributors from E-IMD
J Inherit Metab Dis
2021 Jan;44(1):193-214.
Epub 2020 Sep 15
doi: 10.1002/jimd.12297.
PMID: 32754920
Watkins D,
Rosenblatt DS
Biochimie
2016 Jul;126:3-5.
Epub 2016 May 6
doi: 10.1016/j.biochi.2016.05.001.
PMID: 27163846
Linnell JC,
Bhatt HR
Baillieres Clin Haematol
1995 Sep;8(3):567-601.
doi: 10.1016/s0950-3536(05)80221-5.
PMID: 8534962
Qureshi AA,
Rosenblatt DS,
Cooper BA
Crit Rev Oncol Hematol
1994 Oct;17(2):133-51.
doi: 10.1016/1040-8428(94)90022-1.
PMID: 7818787
Clinical prediction guides
Long KR,
Rbaibi Y,
Bondi CD,
Ford BR,
Poholek AC,
Boyd-Shiwarski CR,
Tan RJ,
Locker JD,
Weisz OA
Am J Physiol Renal Physiol
2022 Jan 1;322(1):F14-F26.
Epub 2021 Nov 8
doi: 10.1152/ajprenal.00259.2021.
PMID: 34747197Free PMC Article
Hörster F,
Tuncel AT,
Gleich F,
Plessl T,
Froese SD,
Garbade SF,
Kölker S,
Baumgartner MR;
Additional Contributors from E-IMD
J Inherit Metab Dis
2021 Jan;44(1):193-214.
Epub 2020 Sep 15
doi: 10.1002/jimd.12297.
PMID: 32754920
Battaglia-Hsu SF,
Ghemrawi R,
Coelho D,
Dreumont N,
Mosca P,
Hergalant S,
Gauchotte G,
Sequeira JM,
Ndiongue M,
Houlgatte R,
Alberto JM,
Umoret R,
Robert A,
Paoli J,
Jung M,
Quadros EV,
Guéant JL
Nucleic Acids Res
2018 Sep 6;46(15):7844-7857.
doi: 10.1093/nar/gky634.
PMID: 30016500Free PMC Article
Bassila C,
Ghemrawi R,
Flayac J,
Froese DS,
Baumgartner MR,
Guéant JL,
Coelho D
Biochim Biophys Acta Mol Basis Dis
2017 Jan;1863(1):103-112.
Epub 2016 Oct 19
doi: 10.1016/j.bbadis.2016.10.016.
PMID: 27771510
Hitzig WH
Birth Defects Orig Artic Ser
1983;19(3):307-12.
PMID: 6360243