Etiology
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Diagnosis
Sahu P,
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Vitam Horm
2022;119:457-470.
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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,
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Assmann B,
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Leuzzi V,
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Porta F,
García-Cazorla A,
Honzík T,
Pons R,
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Artuch R,
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Horvath G,
Thöny B,
Scholl-Bürgi S,
Burlina A,
Verbeek MM,
Mastrangelo M,
Friedman J,
Wassenberg T,
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Kuseyri Hübschmann O;
International Working Group on Neurotransmitter related Disorders (iNTD)
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Ebara S
Congenit Anom (Kyoto)
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Mitochondrion
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Therapy
Miraglia N,
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Altern Ther Health Med
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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.
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PMID: 32456656Free PMC Article
Bedoui Y,
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2019 Oct 10;20(20)
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van Gool JD,
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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,
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Senekal M,
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Green R,
Miller JW
Vitam Horm
2022;119:405-439.
Epub 2022 Mar 11
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PMID: 35337628
Wu HHL,
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Vitam Horm
2022;119:325-353.
Epub 2022 Feb 25
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PMID: 35337625
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Genet Med
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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
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PMID: 35337625
Hoxha B,
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Cells
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