Etiology
Zheng Y,
Guo H,
Chen L,
Cheng W,
Yan K,
Zhang Z,
Li M,
Jin Y,
Hu G,
Wang C,
Zhou C,
Zhou W,
Jia Z,
Zheng B,
Liu Z
Hepatol Int
2024 Apr;18(2):661-672.
Epub 2023 Jun 14
doi: 10.1007/s12072-023-10553-6.
PMID: 37314652
Vogel GF,
Mozer-Glassberg Y,
Landau YE,
Schlieben LD,
Prokisch H,
Feichtinger RG,
Mayr JA,
Brennenstuhl H,
Schröter J,
Pechlaner A,
Alkuraya FS,
Baker JJ,
Barcia G,
Baric I,
Braverman N,
Burnyte B,
Christodoulou J,
Ciara E,
Coman D,
Das AM,
Darin N,
Della Marina A,
Distelmaier F,
Eklund EA,
Ersoy M,
Fang W,
Gaignard P,
Ganetzky RD,
Gonzales E,
Howard C,
Hughes J,
Konstantopoulou V,
Kose M,
Kerr M,
Khan A,
Lenz D,
McFarland R,
Margolis MG,
Morrison K,
Müller T,
Murayama K,
Nicastro E,
Pennisi A,
Peters H,
Piekutowska-Abramczuk D,
Rötig A,
Santer R,
Scaglia F,
Schiff M,
Shagrani M,
Sharrard M,
Soler-Alfonso C,
Staufner C,
Storey I,
Stormon M,
Taylor RW,
Thorburn DR,
Teles EL,
Wang JS,
Weghuber D,
Wortmann S
Genet Med
2023 Jun;25(6):100314.
Epub 2022 Oct 29
doi: 10.1016/j.gim.2022.09.015.
PMID: 36305855
Matus M,
Morgan TL,
McClain RL,
Ladlie BL
Exp Clin Transplant
2022 Oct;20(10):965-966.
Epub 2022 Jul 22
doi: 10.6002/ect.2022.0089.
PMID: 35867014
Murali CN,
Soler-Alfonso C,
Loomes KM,
Shah AA,
Monteil D,
Padilla CD,
Scaglia F,
Ganetzky R
Mol Genet Metab
2021 Feb;132(2):146-153.
Epub 2021 Jan 14
doi: 10.1016/j.ymgme.2021.01.005.
PMID: 33485800Free PMC Article
Lone KS,
AlSaleem B,
Asery A,
Bashir MS,
Al-Hussaini A
J Pediatr Gastroenterol Nutr
2020 Feb;70(2):e26-e32.
doi: 10.1097/MPG.0000000000002554.
PMID: 31978013
Diagnosis
Hammann N,
Lenz D,
Baric I,
Crushell E,
Vici CD,
Distelmaier F,
Feillet F,
Freisinger P,
Hempel M,
Khoreva AL,
Laass MW,
Lacassie Y,
Lainka E,
Larson-Nath C,
Li Z,
Lipiński P,
Lurz E,
Mégarbané A,
Nobre S,
Olivieri G,
Peters B,
Prontera P,
Schlieben LD,
Seroogy CM,
Sobacchi C,
Suzuki S,
Tran C,
Vockley J,
Wang JS,
Wagner M,
Prokisch H,
Garbade SF,
Kölker S,
Hoffmann GF,
Staufner C
Mol Genet Metab
2024 Mar;141(3):108118.
Epub 2024 Jan 11
doi: 10.1016/j.ymgme.2023.108118.
PMID: 38244286
Çakır M,
İssi F,
Güven B,
Yakici N,
Karaguzel G,
Selimoglu A
Klin Padiatr
2023 Jul;235(4):245-249.
Epub 2023 Feb 27
doi: 10.1055/a-1937-9397.
PMID: 36848941
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Murali CN,
Soler-Alfonso C,
Loomes KM,
Shah AA,
Monteil D,
Padilla CD,
Scaglia F,
Ganetzky R
Mol Genet Metab
2021 Feb;132(2):146-153.
Epub 2021 Jan 14
doi: 10.1016/j.ymgme.2021.01.005.
PMID: 33485800Free PMC Article
Lone KS,
AlSaleem B,
Asery A,
Bashir MS,
Al-Hussaini A
J Pediatr Gastroenterol Nutr
2020 Feb;70(2):e26-e32.
doi: 10.1097/MPG.0000000000002554.
PMID: 31978013
Therapy
Vogel GF,
Mozer-Glassberg Y,
Landau YE,
Schlieben LD,
Prokisch H,
Feichtinger RG,
Mayr JA,
Brennenstuhl H,
Schröter J,
Pechlaner A,
Alkuraya FS,
Baker JJ,
Barcia G,
Baric I,
Braverman N,
Burnyte B,
Christodoulou J,
Ciara E,
Coman D,
Das AM,
Darin N,
Della Marina A,
Distelmaier F,
Eklund EA,
Ersoy M,
Fang W,
Gaignard P,
Ganetzky RD,
Gonzales E,
Howard C,
Hughes J,
Konstantopoulou V,
Kose M,
Kerr M,
Khan A,
Lenz D,
McFarland R,
Margolis MG,
Morrison K,
Müller T,
Murayama K,
Nicastro E,
Pennisi A,
Peters H,
Piekutowska-Abramczuk D,
Rötig A,
Santer R,
Scaglia F,
Schiff M,
Shagrani M,
Sharrard M,
Soler-Alfonso C,
Staufner C,
Storey I,
Stormon M,
Taylor RW,
Thorburn DR,
Teles EL,
Wang JS,
Weghuber D,
Wortmann S
Genet Med
2023 Jun;25(6):100314.
Epub 2022 Oct 29
doi: 10.1016/j.gim.2022.09.015.
PMID: 36305855
Murali CN,
Soler-Alfonso C,
Loomes KM,
Shah AA,
Monteil D,
Padilla CD,
Scaglia F,
Ganetzky R
Mol Genet Metab
2021 Feb;132(2):146-153.
Epub 2021 Jan 14
doi: 10.1016/j.ymgme.2021.01.005.
PMID: 33485800Free PMC Article
Kim AY,
Hughes JJ,
Pipitone Dempsey A,
Sondergaard Schatz K,
Wang T,
Gunay-Aygun M
Pediatrics
2020 Aug;146(2)
doi: 10.1542/peds.2019-3324.
PMID: 32709737
Staufner C,
Peters B,
Wagner M,
Alameer S,
Barić I,
Broué P,
Bulut D,
Church JA,
Crushell E,
Dalgıç B,
Das AM,
Dick A,
Dikow N,
Dionisi-Vici C,
Distelmaier F,
Bozbulut NE,
Feillet F,
Gonzales E,
Hadzic N,
Hauck F,
Hegarty R,
Hempel M,
Herget T,
Klein C,
Konstantopoulou V,
Kopajtich R,
Kuster A,
Laass MW,
Lainka E,
Larson-Nath C,
Leibner A,
Lurz E,
Mayr JA,
McKiernan P,
Mention K,
Moog U,
Mungan NO,
Riedhammer KM,
Santer R,
Palafoll IV,
Vockley J,
Westphal DS,
Wiedemann A,
Wortmann SB,
Diwan GD,
Russell RB,
Prokisch H,
Garbade SF,
Kölker S,
Hoffmann GF,
Lenz D
Genet Med
2020 Mar;22(3):610-621.
Epub 2019 Nov 25
doi: 10.1038/s41436-019-0698-4.
PMID: 31761904
Prognosis
Li SY,
Feng JY,
Li ZD,
Liu T
Orphanet J Rare Dis
2024 Jun 6;19(1):225.
doi: 10.1186/s13023-024-03229-3.
PMID: 38844943Free PMC Article
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Murali CN,
Soler-Alfonso C,
Loomes KM,
Shah AA,
Monteil D,
Padilla CD,
Scaglia F,
Ganetzky R
Mol Genet Metab
2021 Feb;132(2):146-153.
Epub 2021 Jan 14
doi: 10.1016/j.ymgme.2021.01.005.
PMID: 33485800Free PMC Article
Lone KS,
AlSaleem B,
Asery A,
Bashir MS,
Al-Hussaini A
J Pediatr Gastroenterol Nutr
2020 Feb;70(2):e26-e32.
doi: 10.1097/MPG.0000000000002554.
PMID: 31978013
Casey JP,
Slattery S,
Cotter M,
Monavari AA,
Knerr I,
Hughes J,
Treacy EP,
Devaney D,
McDermott M,
Laffan E,
Wong D,
Lynch SA,
Bourke B,
Crushell E
J Inherit Metab Dis
2015 Nov;38(6):1085-92.
Epub 2015 Apr 28
doi: 10.1007/s10545-015-9849-1.
PMID: 25917789
Clinical prediction guides
Li SY,
Feng JY,
Li ZD,
Liu T
Orphanet J Rare Dis
2024 Jun 6;19(1):225.
doi: 10.1186/s13023-024-03229-3.
PMID: 38844943Free PMC Article
Samanta A,
Srivastava A,
Mandal K,
Sarma MS,
Poddar U
Indian J Gastroenterol
2023 Aug;42(4):569-574.
Epub 2023 Feb 8
doi: 10.1007/s12664-022-01281-0.
PMID: 36753038
Vogel GF,
Mozer-Glassberg Y,
Landau YE,
Schlieben LD,
Prokisch H,
Feichtinger RG,
Mayr JA,
Brennenstuhl H,
Schröter J,
Pechlaner A,
Alkuraya FS,
Baker JJ,
Barcia G,
Baric I,
Braverman N,
Burnyte B,
Christodoulou J,
Ciara E,
Coman D,
Das AM,
Darin N,
Della Marina A,
Distelmaier F,
Eklund EA,
Ersoy M,
Fang W,
Gaignard P,
Ganetzky RD,
Gonzales E,
Howard C,
Hughes J,
Konstantopoulou V,
Kose M,
Kerr M,
Khan A,
Lenz D,
McFarland R,
Margolis MG,
Morrison K,
Müller T,
Murayama K,
Nicastro E,
Pennisi A,
Peters H,
Piekutowska-Abramczuk D,
Rötig A,
Santer R,
Scaglia F,
Schiff M,
Shagrani M,
Sharrard M,
Soler-Alfonso C,
Staufner C,
Storey I,
Stormon M,
Taylor RW,
Thorburn DR,
Teles EL,
Wang JS,
Weghuber D,
Wortmann S
Genet Med
2023 Jun;25(6):100314.
Epub 2022 Oct 29
doi: 10.1016/j.gim.2022.09.015.
PMID: 36305855
Lone KS,
AlSaleem B,
Asery A,
Bashir MS,
Al-Hussaini A
J Pediatr Gastroenterol Nutr
2020 Feb;70(2):e26-e32.
doi: 10.1097/MPG.0000000000002554.
PMID: 31978013
Staufner C,
Peters B,
Wagner M,
Alameer S,
Barić I,
Broué P,
Bulut D,
Church JA,
Crushell E,
Dalgıç B,
Das AM,
Dick A,
Dikow N,
Dionisi-Vici C,
Distelmaier F,
Bozbulut NE,
Feillet F,
Gonzales E,
Hadzic N,
Hauck F,
Hegarty R,
Hempel M,
Herget T,
Klein C,
Konstantopoulou V,
Kopajtich R,
Kuster A,
Laass MW,
Lainka E,
Larson-Nath C,
Leibner A,
Lurz E,
Mayr JA,
McKiernan P,
Mention K,
Moog U,
Mungan NO,
Riedhammer KM,
Santer R,
Palafoll IV,
Vockley J,
Westphal DS,
Wiedemann A,
Wortmann SB,
Diwan GD,
Russell RB,
Prokisch H,
Garbade SF,
Kölker S,
Hoffmann GF,
Lenz D
Genet Med
2020 Mar;22(3):610-621.
Epub 2019 Nov 25
doi: 10.1038/s41436-019-0698-4.
PMID: 31761904