Etiology
Green R,
Miller JW
Vitam Horm
2022;119:405-439.
Epub 2022 Mar 11
doi: 10.1016/bs.vh.2022.02.003.
PMID: 35337628
Shulpekova Y,
Nechaev V,
Kardasheva S,
Sedova A,
Kurbatova A,
Bueverova E,
Kopylov A,
Malsagova K,
Dlamini JC,
Ivashkin V
Molecules
2021 Jun 18;26(12)
doi: 10.3390/molecules26123731.
PMID: 34207319Free PMC Article
van Gool JD,
Hirche H,
Lax H,
De Schaepdrijver L
Reprod Toxicol
2018 Sep;80:73-84.
Epub 2018 May 16
doi: 10.1016/j.reprotox.2018.05.004.
PMID: 29777755
Ebara S
Congenit Anom (Kyoto)
2017 Sep;57(5):138-141.
Epub 2017 Jul 25
doi: 10.1111/cga.12233.
PMID: 28603928
Scaglione F,
Panzavolta G
Xenobiotica
2014 May;44(5):480-8.
Epub 2014 Feb 4
doi: 10.3109/00498254.2013.845705.
PMID: 24494987
Diagnosis
Sahu P,
Thippeswamy H,
Chaturvedi SK
Vitam Horm
2022;119:457-470.
Epub 2022 Mar 3
doi: 10.1016/bs.vh.2022.01.001.
PMID: 35337631
Green R,
Miller JW
Vitam Horm
2022;119:405-439.
Epub 2022 Mar 11
doi: 10.1016/bs.vh.2022.02.003.
PMID: 35337628
Opladen T,
López-Laso E,
Cortès-Saladelafont E,
Pearson TS,
Sivri HS,
Yildiz Y,
Assmann B,
Kurian MA,
Leuzzi V,
Heales S,
Pope S,
Porta F,
García-Cazorla A,
Honzík T,
Pons R,
Regal L,
Goez H,
Artuch R,
Hoffmann GF,
Horvath G,
Thöny B,
Scholl-Bürgi S,
Burlina A,
Verbeek MM,
Mastrangelo M,
Friedman J,
Wassenberg T,
Jeltsch K,
Kulhánek J,
Kuseyri Hübschmann O;
International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis
2020 May 26;15(1):126.
doi: 10.1186/s13023-020-01379-8.
PMID: 32456656Free PMC Article
Ebara S
Congenit Anom (Kyoto)
2017 Sep;57(5):138-141.
Epub 2017 Jul 25
doi: 10.1111/cga.12233.
PMID: 28603928
Naviaux RK
Mitochondrion
2014 May;16:7-17.
Epub 2013 Aug 24
doi: 10.1016/j.mito.2013.08.006.
PMID: 23981537
Therapy
Fardous AM,
Heydari AR
Nutrients
2023 Nov 6;15(21)
doi: 10.3390/nu15214699.
PMID: 37960352Free PMC Article
Opladen T,
López-Laso E,
Cortès-Saladelafont E,
Pearson TS,
Sivri HS,
Yildiz Y,
Assmann B,
Kurian MA,
Leuzzi V,
Heales S,
Pope S,
Porta F,
García-Cazorla A,
Honzík T,
Pons R,
Regal L,
Goez H,
Artuch R,
Hoffmann GF,
Horvath G,
Thöny B,
Scholl-Bürgi S,
Burlina A,
Verbeek MM,
Mastrangelo M,
Friedman J,
Wassenberg T,
Jeltsch K,
Kulhánek J,
Kuseyri Hübschmann O;
International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis
2020 May 26;15(1):126.
doi: 10.1186/s13023-020-01379-8.
PMID: 32456656Free PMC Article
Bedoui Y,
Guillot X,
Sélambarom J,
Guiraud P,
Giry C,
Jaffar-Bandjee MC,
Ralandison S,
Gasque P
Int J Mol Sci
2019 Oct 10;20(20)
doi: 10.3390/ijms20205023.
PMID: 31658782Free PMC Article
van Gool JD,
Hirche H,
Lax H,
De Schaepdrijver L
Reprod Toxicol
2018 Sep;80:73-84.
Epub 2018 May 16
doi: 10.1016/j.reprotox.2018.05.004.
PMID: 29777755
Ebara S
Congenit Anom (Kyoto)
2017 Sep;57(5):138-141.
Epub 2017 Jul 25
doi: 10.1111/cga.12233.
PMID: 28603928
Prognosis
Wang L,
Li X,
Montazeri A,
MacFarlane AJ,
Momoli F,
Duthie S,
Senekal M,
Eguiagaray IM,
Munger R,
Bennett D,
Campbell H,
Rubini M,
McNulty H,
Little J,
Theodoratou E
Am J Clin Nutr
2023 Mar;117(3):564-575.
Epub 2023 Jan 13
doi: 10.1016/j.ajcnut.2023.01.005.
PMID: 36811473Free PMC Article
Green R,
Miller JW
Vitam Horm
2022;119:405-439.
Epub 2022 Mar 11
doi: 10.1016/bs.vh.2022.02.003.
PMID: 35337628
Wu HHL,
Wang AY
Vitam Horm
2022;119:325-353.
Epub 2022 Feb 25
doi: 10.1016/bs.vh.2022.01.011.
PMID: 35337625
Pezza M,
Carlomagno V,
Casucci G
G Ital Dermatol Venereol
2015 Dec;150(6):649-53.
Epub 2014 Jul 31
PMID: 25077885
Vockley J,
Andersson HC,
Antshel KM,
Braverman NE,
Burton BK,
Frazier DM,
Mitchell J,
Smith WE,
Thompson BH,
Berry SA;
American College of Medical Genetics and Genomics Therapeutics Committee
Genet Med
2014 Feb;16(2):188-200.
Epub 2013 Oct 10
doi: 10.1038/gim.2013.157.
PMID: 24385074
Clinical prediction guides
Green R,
Miller JW
Vitam Horm
2022;119:405-439.
Epub 2022 Mar 11
doi: 10.1016/bs.vh.2022.02.003.
PMID: 35337628
Wu HHL,
Wang AY
Vitam Horm
2022;119:325-353.
Epub 2022 Feb 25
doi: 10.1016/bs.vh.2022.01.011.
PMID: 35337625
Hoxha B,
Hoxha M,
Domi E,
Gervasoni J,
Persichilli S,
Malaj V,
Zappacosta B
Cells
2021 Aug 3;10(8)
doi: 10.3390/cells10081976.
PMID: 34440744Free PMC Article
Shulpekova Y,
Nechaev V,
Kardasheva S,
Sedova A,
Kurbatova A,
Bueverova E,
Kopylov A,
Malsagova K,
Dlamini JC,
Ivashkin V
Molecules
2021 Jun 18;26(12)
doi: 10.3390/molecules26123731.
PMID: 34207319Free PMC Article
Kay J,
Upchurch KS
Rheumatology (Oxford)
2012 Dec;51 Suppl 6:vi5-9.
doi: 10.1093/rheumatology/kes279.
PMID: 23221588