Etiology
Mazi TA,
Stanhope KL
Nutrients
2023 Sep 16;15(18)
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Williams M,
Valayannopoulos V,
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Lapatto R,
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Mulder MF,
Tylki-Szymańska A,
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Alfadhel M,
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Loeffen YG,
Biebuyck N,
Wamelink MM,
Jakobs C,
Mulder MF,
Tylki-Szymańska A,
Fung CW,
Valayannopoulos V,
Bökenkamp A
Nephrol Dial Transplant
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Walter JH
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Lestas AN,
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Diagnosis
Shayota BJ,
Donti TR,
Xiao J,
Gijavanekar C,
Kennedy AD,
Hubert L,
Rodan L,
Vanderpluym C,
Nowak C,
Bjornsson HT,
Ganetzky R,
Berry GT,
Pappan KL,
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Williams M,
Valayannopoulos V,
Altassan R,
Chung WK,
Heijboer AC,
Keng WT,
Lapatto R,
McClean P,
Mulder MF,
Tylki-Szymańska A,
Walenkamp ME,
Alfadhel M,
Alakeel H,
Salomons GS,
Eyaid W,
Wamelink MMC
J Inherit Metab Dis
2019 Jan;42(1):147-158.
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Saudubray JM,
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Walter JH
J Inherit Metab Dis
2006 Apr-Jun;29(2-3):261-74.
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PMID: 16763886
Lestas AN,
Bellingham AJ
Blood Rev
1990 Sep;4(3):148-57.
doi: 10.1016/0268-960x(90)90042-q.
PMID: 2245250
Prognosis
Hermans ME,
van Weeghel M,
Vaz FM,
Ferdinandusse S,
Hollak CEM,
Huidekoper HH,
Janssen MCH,
van Kuilenburg ABP,
Pras-Raves ML,
Wamelink MMC,
Wanders RJA,
Welsink-Karssies MM,
Bosch AM
J Inherit Metab Dis
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Williams M,
Valayannopoulos V,
Altassan R,
Chung WK,
Heijboer AC,
Keng WT,
Lapatto R,
McClean P,
Mulder MF,
Tylki-Szymańska A,
Walenkamp ME,
Alfadhel M,
Alakeel H,
Salomons GS,
Eyaid W,
Wamelink MMC
J Inherit Metab Dis
2019 Jan;42(1):147-158.
doi: 10.1002/jimd.12036.
PMID: 30740741
Brooks SS,
Anderson S,
Bhise V,
Botti C
J Child Neurol
2018 Oct;33(12):784-787.
Epub 2018 Aug 8
doi: 10.1177/0883073818789316.
PMID: 30088433
Eyaid W,
Al Harbi T,
Anazi S,
Wamelink MM,
Jakobs C,
Al Salammah M,
Al Balwi M,
Alfadhel M,
Alkuraya FS
J Inherit Metab Dis
2013 Nov;36(6):997-1004.
Epub 2013 Jan 12
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PMID: 23315216
Clinical prediction guides
Hermans ME,
van Weeghel M,
Vaz FM,
Ferdinandusse S,
Hollak CEM,
Huidekoper HH,
Janssen MCH,
van Kuilenburg ABP,
Pras-Raves ML,
Wamelink MMC,
Wanders RJA,
Welsink-Karssies MM,
Bosch AM
J Inherit Metab Dis
2022 Nov;45(6):1094-1105.
Epub 2022 Aug 25
doi: 10.1002/jimd.12548.
PMID: 36053831
Eyaid W,
Al Harbi T,
Anazi S,
Wamelink MM,
Jakobs C,
Al Salammah M,
Al Balwi M,
Alfadhel M,
Alkuraya FS
J Inherit Metab Dis
2013 Nov;36(6):997-1004.
Epub 2013 Jan 12
doi: 10.1007/s10545-012-9577-8.
PMID: 23315216
Bannasch P
World J Gastroenterol
2012 Dec 14;18(46):6701-8.
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