Etiology
Parolisi S,
Montanari C,
Borghi E,
Cazzorla C,
Zuvadelli J,
Tosi M,
Barone R,
Bensi G,
Bonfanti C,
Dionisi Vici C,
Biasucci G,
Burlina A,
Carbone MT,
Verduci E;
SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism
Pharmacol Res
2023 Nov;197:106952.
Epub 2023 Oct 5
doi: 10.1016/j.phrs.2023.106952.
PMID: 37804926
Almannai M,
Felemban R,
Saleh MA,
Faqeih EA,
Alasmari A,
AlHashem A,
Mohamed S,
Sunbul R,
Al-Murshedi F,
AlThihli K,
Eyaid W,
Ali R,
Ben-Omran T,
Blau N,
El-Hattab AW,
Alfadhel M
Pediatr Neurol
2019 Jul;96:40-47.
Epub 2019 Feb 18
doi: 10.1016/j.pediatrneurol.2019.02.008.
PMID: 30926181
Hedlund GL,
Longo N,
Pasquali M
Am J Med Genet C Semin Med Genet
2006 May 15;142C(2):86-94.
doi: 10.1002/ajmg.c.30088.
PMID: 16602100Free PMC Article
Yannicelli S,
Rohr F,
Warman ML
J Am Diet Assoc
1994 Feb;94(2):183-8,191; quiz 189-90.
doi: 10.1016/0002-8223(94)90245-3.
PMID: 8300996
Ebadi M,
Gessert CF,
Al-Sayegh A
Q Rev Drug Metab Drug Interact
1982;4(4):289-331.
doi: 10.1515/dmdi.1982.4.4.289.
PMID: 6087425
Diagnosis
Whyte MP,
Zhang F,
Wenkert D,
Mack KE,
Bijanki VN,
Ericson KL,
Coburn SP
Bone
2022 Jan;154:116204.
Epub 2021 Sep 20
doi: 10.1016/j.bone.2021.116204.
PMID: 34547524
Kölker S,
Christensen E,
Leonard JV,
Greenberg CR,
Boneh A,
Burlina AB,
Burlina AP,
Dixon M,
Duran M,
García Cazorla A,
Goodman SI,
Koeller DM,
Kyllerman M,
Mühlhausen C,
Müller E,
Okun JG,
Wilcken B,
Hoffmann GF,
Burgard P
J Inherit Metab Dis
2011 Jun;34(3):677-94.
Epub 2011 Mar 23
doi: 10.1007/s10545-011-9289-5.
PMID: 21431622Free PMC Article
Longo N
J Inherit Metab Dis
2009 Jun;32(3):333-42.
Epub 2009 Feb 9
doi: 10.1007/s10545-009-1067-2.
PMID: 19234759
Hedlund GL,
Longo N,
Pasquali M
Am J Med Genet C Semin Med Genet
2006 May 15;142C(2):86-94.
doi: 10.1002/ajmg.c.30088.
PMID: 16602100Free PMC Article
Shintaku H
Curr Drug Metab
2002 Apr;3(2):123-31.
doi: 10.2174/1389200024605145.
PMID: 12003346
Therapy
Bernstein L,
Coughlin CR,
Drumm M,
Yannicelli S,
Rohr F
Nutrients
2020 Oct 16;12(10)
doi: 10.3390/nu12103162.
PMID: 33081139Free PMC Article
Pavlova EV,
Shatunov A,
Wartosch L,
Moskvina AI,
Nikolaeva LE,
Bright NA,
Tylee KL,
Church HJ,
Ballabio A,
Luzio JP,
Cox TM
Hum Mol Genet
2019 Aug 1;28(15):2514-2530.
doi: 10.1093/hmg/ddz077.
PMID: 31070736Free PMC Article
Yannicelli S,
Rohr F,
Warman ML
J Am Diet Assoc
1994 Feb;94(2):183-8,191; quiz 189-90.
doi: 10.1016/0002-8223(94)90245-3.
PMID: 8300996
Shideler CE
Am J Med Technol
1983 Jan;49(1):17-22.
PMID: 6342384
Komrower GM,
Westall R
Am J Dis Child
1967 Jan;113(1):77-80.
doi: 10.1001/archpedi.1967.02090160127016.
PMID: 6015911
Prognosis
Pavlova EV,
Shatunov A,
Wartosch L,
Moskvina AI,
Nikolaeva LE,
Bright NA,
Tylee KL,
Church HJ,
Ballabio A,
Luzio JP,
Cox TM
Hum Mol Genet
2019 Aug 1;28(15):2514-2530.
doi: 10.1093/hmg/ddz077.
PMID: 31070736Free PMC Article
Hu L,
Ibrahim K,
Stucki M,
Frapolli M,
Shahbeck N,
Chaudhry FA,
Görg B,
Häussinger D,
Penberthy WT,
Ben-Omran T,
Häberle J
J Inherit Metab Dis
2015 Nov;38(6):1075-83.
Epub 2015 Apr 21
doi: 10.1007/s10545-015-9846-4.
PMID: 25896882
Kölker S,
Christensen E,
Leonard JV,
Greenberg CR,
Boneh A,
Burlina AB,
Burlina AP,
Dixon M,
Duran M,
García Cazorla A,
Goodman SI,
Koeller DM,
Kyllerman M,
Mühlhausen C,
Müller E,
Okun JG,
Wilcken B,
Hoffmann GF,
Burgard P
J Inherit Metab Dis
2011 Jun;34(3):677-94.
Epub 2011 Mar 23
doi: 10.1007/s10545-011-9289-5.
PMID: 21431622Free PMC Article
Bachmann C
J Inherit Metab Dis
1992;15(4):578-91.
doi: 10.1007/BF01799616.
PMID: 1528018
Fischer MH,
Brown RR
Am J Med Genet
1980;5(1):35-41.
doi: 10.1002/ajmg.1320050106.
PMID: 6772026
Clinical prediction guides
Parolisi S,
Montanari C,
Borghi E,
Cazzorla C,
Zuvadelli J,
Tosi M,
Barone R,
Bensi G,
Bonfanti C,
Dionisi Vici C,
Biasucci G,
Burlina A,
Carbone MT,
Verduci E;
SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism
Pharmacol Res
2023 Nov;197:106952.
Epub 2023 Oct 5
doi: 10.1016/j.phrs.2023.106952.
PMID: 37804926
Moschetti A,
Vine LN,
Lethcoe K,
Dagda RK,
Ellison P,
Ryan RO
Lipids
2020 Mar;55(2):141-149.
Epub 2020 Feb 19
doi: 10.1002/lipd.12218.
PMID: 32074388Free PMC Article
Almannai M,
Felemban R,
Saleh MA,
Faqeih EA,
Alasmari A,
AlHashem A,
Mohamed S,
Sunbul R,
Al-Murshedi F,
AlThihli K,
Eyaid W,
Ali R,
Ben-Omran T,
Blau N,
El-Hattab AW,
Alfadhel M
Pediatr Neurol
2019 Jul;96:40-47.
Epub 2019 Feb 18
doi: 10.1016/j.pediatrneurol.2019.02.008.
PMID: 30926181
Kölker S,
Christensen E,
Leonard JV,
Greenberg CR,
Boneh A,
Burlina AB,
Burlina AP,
Dixon M,
Duran M,
García Cazorla A,
Goodman SI,
Koeller DM,
Kyllerman M,
Mühlhausen C,
Müller E,
Okun JG,
Wilcken B,
Hoffmann GF,
Burgard P
J Inherit Metab Dis
2011 Jun;34(3):677-94.
Epub 2011 Mar 23
doi: 10.1007/s10545-011-9289-5.
PMID: 21431622Free PMC Article
Bachmann C
J Inherit Metab Dis
1992;15(4):578-91.
doi: 10.1007/BF01799616.
PMID: 1528018