日期:
2020 年 — 2026 年
2020
2021
2022
2023
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2025
2026
影响因子:

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies

氨基酸代谢先天性缺陷再探:临床意义及当前疗法的启示

Shakerdi, Abdul L; Nerney, Darragh; Molloy, Eleanor J; Knerr, Ina

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

儿童亚甲基四氢叶酸还原酶 (MTHFR) 缺乏症表型谱的扩展:病例系列研究

Loftus, Eimear; Elbishari, Zaineb; Fitzsimons, Patricia; Howard, Caoimhe; Sheikh, Yusra; Lynch, Bryan; Crushell, Ellen; Knerr, Ina

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach

3-甲基巴豆酰辅酶A羧化酶缺乏症导致儿童发育倒退和迟缓:呼吁早期诊断和多学科协作。

Gulzar, Muhammad Moazzam; Sarani, Zulfiqar Ali; Tariq, Muhammad; Knerr, Ina

Determination of the Protein and Amino Acid Content of Fruit, Vegetables and Starchy Roots for Use in Inherited Metabolic Disorders

测定水果、蔬菜和淀粉类根茎中的蛋白质和氨基酸含量,以用于遗传代谢紊乱的诊断

Boyle, Fiona; Lynch, Gary; Reynolds, Clare M; Green, Adam; Parr, Gemma; Howard, Caoimhe; Knerr, Ina; Rice, Jane

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

琥珀酸半醛脱氢酶缺乏症诊断和治疗共识指南

Tokatly Latzer, Itay; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L; Elsea, Sarah H; García-Cazorla, Àngels; Gibson, K Michael; Gropman, Andrea L; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Knerr, Ina; Lee, Henry H C; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppebøen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A; Roullet, Jean-Baptiste; Pearl, Phillip L

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

经典型半乳糖血症患者的脑功能:半乳糖血症网络(GalNet)成员综述

Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease

MTFMT相关线粒体疾病的一种新表现:自主神经功能紊乱、心律失常和视力障碍

Howard, Caoimhe; Dev-Borman, Arundhati; Stokes, John; O'Rourke, Declan; Gillespie, Ciara; Twomey, Eilish; Knerr, Ina; Boruah, Ritma

Ornithine transcarbamylase deficiency: A diagnostic odyssey

鸟氨酸转氨甲酰酶缺乏症:一段诊断之旅

Knerr, Ina; Cassiman, David