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Social media, alternative metrics and inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 383, doi. 10.1002/jimd.12239
By:
- Nurse, James;
- Morava, Eva
Publication type:
Article
A galactose‐1‐phosphate uridylyltransferase‐null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue‐specific and longitudinal differences in galactose metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 518, doi. 10.1002/jimd.12205
By:
- Rasmussen, Shauna A.;
- Daenzer, Jennifer M. I.;
- MacWilliams, Jessica A.;
- Head, S. Taylor;
- Williams, Martine B.;
- Geurts, Aron M.;
- Schroeder, Jason P.;
- Weinshenker, David;
- Fridovich‐Keil, Judith L.
Publication type:
Article
Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 586, doi. 10.1002/jimd.12210
By:
- Donida, Bruna;
- Raabe, Marco;
- Tauffner, Bárbara;
- Farias, Marcelo A.;
- Machado, Andryele Z.;
- Timm, Fernanda;
- Kessler, Rejane G.;
- Hammerschmidt, Tatiane G.;
- Reinhardt, Luiza S.;
- Brito, Verônica B.;
- Portugal, Rodrigo V.;
- Bernardi, Andressa;
- Frozza, Rudimar;
- Moura, Dinara J.;
- Giugliani, Roberto;
- Poletto, Fernanda;
- Vargas, Carmen R.
Publication type:
Article
CORRIGENDUM.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 645, doi. 10.1002/jimd.12230
Publication type:
Article
Choosing between medical management and liver transplant in urea cycle disorders: A conceptual framework for parental treatment decision‐making in rare disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 438, doi. 10.1002/jimd.12209
By:
- Gerstein, Maya T.;
- Markus, Anne R.;
- Gianattasio, Kan Z.;
- Le Mons, Cynthia;
- Bartos, Janice;
- Stevens, David M.;
- Mew, Nicholas Ah
Publication type:
Article
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 602, doi. 10.1002/jimd.12208
By:
- Brennenstuhl, Heiko;
- Kohlmüller, Dirk;
- Gramer, Gwendolyn;
- Garbade, Sven F.;
- Syrbe, Steffen;
- Feyh, Patrik;
- Kölker, Stefan;
- Okun, Jürgen G.;
- Hoffmann, Georg F.;
- Opladen, Thomas
Publication type:
Article
The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
By:
- Welsink‐Karssies, Mendy M.;
- Harskamp, Dewi;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- Kemper, E. Marleen;
- Langendonk, Janneke G.;
- Rubio‐Gozalbo, M. Estela;
- Vries, Maaike C.;
- Wijburg, Frits A.;
- Schierbeek, Henk;
- Bosch, Annet M.
Publication type:
Article
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 467, doi. 10.1002/jimd.12206
By:
- Lin, Yiming;
- Liu, Yaru;
- Zhu, Lin;
- Le, Kaixing;
- Shen, Yuyan;
- Yang, Chiju;
- Chen, Xigui;
- Hu, Haili;
- Ma, Qingqing;
- Shi, Xueqin;
- Hu, Zhenzhen;
- Yang, Jianbin;
- Shen, Yaping;
- Lin, Chien‐Hsing;
- Huang, Chenggang;
- Huang, Xinwen
Publication type:
Article
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long‐chain acyl‐CoA dehydrogenase KO mouse.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 486, doi. 10.1002/jimd.12204
By:
- Ranea‐Robles, Pablo;
- Yu, Chunli;
- Vlies, Naomi;
- Vaz, Frédéric M.;
- Houten, Sander M.
Publication type:
Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203
By:
- Pennisi, Alessandra;
- Maranda, Bruno;
- Benoist, Jean‐François;
- Baudouin, Véronique;
- Rigal, Odile;
- Pichard, Samia;
- Santer, René;
- Romana Lepri, Francesca;
- Novelli, Antonio;
- Ogier de Baulny, Hélène;
- Dionisi‐Vici, Carlo;
- Schiff, Manuel
Publication type:
Article
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 611, doi. 10.1002/jimd.12200
By:
- Boogert, Marjolein A.W.;
- Crunelle, Cleo L.;
- Ali, Lubna;
- Larsen, Lars E.;
- Kuil, Sacha D.;
- Levels, Johannes H.M.;
- Schimmel, Alinda W.M.;
- Konstantopoulou, Vassiliki;
- Guerin, Maryse;
- Kuivenhoven, Jan Albert;
- Dallinga‐Thie, Geesje M.;
- Stroes, Erik S.G.;
- Lefeber, Dirk J.;
- Holleboom, Adriaan G.
Publication type:
Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 392, doi. 10.1002/jimd.12202
By:
- Haskovic, Minela;
- Coelho, Ana I.;
- Bierau, Jörgen;
- Vanoevelen, Jo M.;
- Steinbusch, Laura K. M.;
- Zimmermann, Luc J. I.;
- Villamor‐Martinez, Eduardo;
- Berry, Gerard T.;
- Rubio‐Gozalbo, M. Estela
Publication type:
Article
Therapeutic potential of triheptanoin in metabolic and neurodegenerative diseases.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 385, doi. 10.1002/jimd.12199
By:
- Wehbe, Zeinab;
- Tucci, Sara
Publication type:
Article
Galactose 1‐phosphate accumulates to high levels in galactose‐treated cells due to low GALT activity and absence of product inhibition of GALK.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 529, doi. 10.1002/jimd.12198
By:
- Oh, Sher Li;
- Cheng, Li Yi;
- J Zhou, Jie Fu;
- Henke, Wolfgang;
- Hagen, Thilo
Publication type:
Article
Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failure.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 496, doi. 10.1002/jimd.12197
By:
- Oaks, Zachary;
- Jimah, John;
- Grossman, Craig C.;
- Beckford, Miguel;
- Kelly, Ryan;
- Banerjee, Sanjay;
- Niland, Brian;
- Miklossy, Gabriella;
- Kuloglu, Zarife;
- Kansu, Aydan;
- Lee, William;
- Szonyi, Laszlo;
- Banki, Katalin;
- Perl, Andras
Publication type:
Article
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 478, doi. 10.1002/jimd.12195
By:
- Chong‐Nguyen, Caroline;
- Stalens, Caroline;
- Goursot, Yves;
- Bougouin, Wulfran;
- Stojkovic, Tanya;
- Béhin, Anthony;
- Mochel, Fanny;
- Berber, Nawal;
- Eymard, Bruno;
- Duboc, Denis;
- Laforêt, Pascal;
- Wahbi, Karim
Publication type:
Article
Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
By:
- Haijes, Hanneke A.;
- Molema, Femke;
- Langeveld, Mirjam;
- Janssen, Mirian C.;
- Bosch, Annet M.;
- Spronsen, Francjan;
- Mulder, Margot F.;
- Verhoeven‐Duif, Nanda M.;
- Jans, Judith J.M.;
- Ploeg, Ans T.;
- Wagenmakers, Margreet A.;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.;
- Vries, Maaike C.;
- Langendonk, Janneke G.;
- Williams, Monique;
- Hasselt, Peter M.
Publication type:
Article
Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 574, doi. 10.1002/jimd.12191
By:
- Colaco, Alexandria;
- Kaya, Ecem;
- Adriaenssens, Elias;
- Davis, Lianne C.;
- Zampieri, Stefania;
- Fernández‐Suárez, María E.;
- Tan, Chong Y.;
- Deegan, Patrick B.;
- Porter, Forbes D.;
- Galione, Antony;
- Bembi, Bruno;
- Dardis, Andrea;
- Platt, Frances M.
Publication type:
Article
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 558, doi. 10.1002/jimd.12192
By:
- Saville, Jennifer T.;
- McDermott, Belinda K.;
- Chin, Sharon J.;
- Fletcher, Janice M.;
- Fuller, Maria
Publication type:
Article
Whole‐body magnetic resonance imaging in late‐onset Pompe disease: Clinical utility and correlation with functional measures.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 549, doi. 10.1002/jimd.12190
By:
- Khan, Aleena A.;
- Boggs, Tracy;
- Bowling, Michael;
- Austin, Stephanie;
- Stefanescu, Mihaela;
- Case, Laura;
- Kishnani, Priya S.
Publication type:
Article
Pharmacokinetics and distribution of 2‐hydroxypropyl‐β‐cyclodextrin following a single intrathecal dose to cats.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 618, doi. 10.1002/jimd.12189
By:
- Kao, Mark L.;
- Stellar, Susan;
- Solon, Eric;
- Lordi, Alfred;
- Kasica, Nicole;
- Swain, Gary;
- Bagel, Jessica H.;
- Gurda, Brittney L.;
- Vite, Charles H.
Publication type:
Article
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 459, doi. 10.1002/jimd.12185
By:
- Papadopoulos, Constantinos;
- Wahbi, Karim;
- Behin, Anthony;
- Bougouin, Wulfran;
- Stojkovic, Tanya;
- Leonard‐Louis, Sarah;
- Berber, Nawal;
- Lombès, Anne;
- Duboc, Denis;
- Jardel, Claude;
- Eymard, Bruno;
- Laforêt, Pascal
Publication type:
Article
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 409, doi. 10.1002/jimd.12183
By:
- Kang, Lulu;
- Liu, Yupeng;
- Shen, Ming;
- Liu, Yi;
- He, Ruxuan;
- Song, Jinqing;
- Jin, Ying;
- Li, Mengqiu;
- Zhang, Yao;
- Dong, Hui;
- Liu, Xueqin;
- Yan, Hui;
- Qin, Jiong;
- Zheng, Hong;
- Chen, Yongxing;
- Li, Dongxiao;
- Wei, Haiyan;
- Zhang, Huifeng;
- Sun, Liying;
- Zhu, Zhijun
Publication type:
Article
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 564, doi. 10.1002/jimd.12182
By:
- Kartha, Reena V.;
- Joers, James;
- Terluk, Marcia R.;
- Travis, Abigail;
- Rudser, Kyle;
- Tuite, Paul J.;
- Weinreb, Neal J.;
- Jarnes, Jeanine R.;
- Cloyd, James C.;
- Öz, Gülin
Publication type:
Article
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 635, doi. 10.1002/jimd.12184
By:
- Laciak, Adrian R.;
- Korasick, David A.;
- Gates, Kent S.;
- Tanner, John J.
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 1, doi. 10.1002/jimd.12116
Publication type:
Article

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