Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 6

Results: 24

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
By:
- Johnstone, Devon L.;
- Nguyen, Thi Tuyet Mai;
- Zambonin, Jessica;
- Kernohan, Kristin D.;
- St‐Denis, Anik;
- Baratang, Nissan V.;
- Hartley, Taila;
- Geraghty, Michael T.;
- Richer, Julie;
- Majewski, Jacek;
- Bareke, Eric;
- Guerin, Andrea;
- Pendziwiat, Manuela;
- Pena, Loren D. M.;
- Braakman, Hilde M. H.;
- Gripp, Karen W.;
- Edmondson, Andrew C.;
- He, Miao;
- Spillmann, Rebecca C.;
- Eklund, Erik A.
Publication type:
Article
A founder noncoding GALT variant interfering with splicing causes galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1199, doi. 10.1002/jimd.12293
By:
- Latchman, Kumarie;
- Brown, Jeanette;
- Sineni, Claire J.;
- Ragin‐Dames, Lorrien;
- Guo, Shengru;
- Huang, Jingyu;
- Thorson, Willa;
- Hacker, Stephanie;
- Barbouth, Deborah;
- Tekin, Mustafa;
- Bademci, Guney
Publication type:
Article
A retrospective study of adult patients with noncirrhotic hyperammonemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1165, doi. 10.1002/jimd.12292
By:
- Stergachis, Andrew B.;
- Mogensen, Kris M.;
- Khoury, Charbel C.;
- Lin, Alexander P.;
- Peake, Roy WA.;
- Baker, Joshua J.;
- Barkoudah, Ebrahim;
- Sahai, Inderneel;
- Sweetser, David A.;
- Berry, Gerard T.;
- Krier, Joel B.
Publication type:
Article
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1370, doi. 10.1002/jimd.12306
By:
- Park, Julien H.;
- Mealer, Robert G.;
- Elias, Abdallah F.;
- Hoffmann, Susanne;
- Grüneberg, Marianne;
- Biskup, Saskia;
- Fobker, Manfred;
- Haven, Jaclyn;
- Mangels, Ute;
- Reunert, Janine;
- Rust, Stephan;
- Schoof, Jonathan;
- Schwanke, Corbin;
- Smoller, Jordan W.;
- Cummings, Richard D.;
- Marquardt, Thorsten
Publication type:
Article
Toshiyuki Fukao.
Published in:
2020
By:
- Mitchell, Grant A.;
- Sasai, Hideo;
- Bastin, Jean;
- Sass, Jörn Oliver;
- Wanders, Ronald JA;
- Yamaguchi, Seiji
Publication type:
Obituary
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1143, doi. 10.1002/jimd.12305
By:
- Finglas, Alan
Publication type:
Article
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1298, doi. 10.1002/jimd.12298
By:
- Adang, Laura A.;
- Schlotawa, Lars;
- Groeschel, Samuel;
- Kehrer, Christiane;
- Harzer, Klaus;
- Staretz‐Chacham, Orna;
- Silva, Thiago Oliveira;
- Schwartz, Ida Vanessa D.;
- Gärtner, Jutta;
- De Castro, Mauricio;
- Costin, Carrie;
- Montgomery, Esperanza Font;
- Dierks, Thomas;
- Radhakrishnan, Karthikeyan;
- Ahrens‐Nicklas, Rebecca C.
Publication type:
Article
Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1279, doi. 10.1002/jimd.12277
By:
- Broek, Brigitte T. A.;
- Smit, Adriana L.;
- Boelens, Jaap Jan;
- Hasselt, Peter M.
Publication type:
Article
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
By:
- Maines, Evelina;
- Catesini, Giulio;
- Boenzi, Sara;
- Mosca, Antonella;
- Candusso, Manila;
- Dello Strologo, Luca;
- Martinelli, Diego;
- Maiorana, Arianna;
- Liguori, Alessandra;
- Olivieri, Giorgia;
- Taurisano, Roberta;
- Piemonte, Fiorella;
- Rizzo, Cristiano;
- Spada, Marco;
- Dionisi‐Vici, Carlo
Publication type:
Article
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1186, doi. 10.1002/jimd.12295
By:
- Leung, Kit‐Yi;
- De Castro, Sandra C. P.;
- Santos, Chloe;
- Savery, Dawn;
- Prunty, Helen;
- Gold‐Diaz, Diana;
- Bennett, Stuart;
- Heales, Simon;
- Copp, Andrew J.;
- Greene, Nicholas D. E.
Publication type:
Article
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1288, doi. 10.1002/jimd.12282
By:
- Schlotawa, Lars;
- Preiskorn, Joana;
- Ahrens‐Nicklas, Rebecca;
- Schiller, Stina;
- Adang, Laura A.;
- Gärtner, Jutta;
- Friede, Tim
Publication type:
Article
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1205, doi. 10.1002/jimd.12279
By:
- Ahtam, Banu;
- Waisbren, Susan E.;
- Anastasoaie, Vera;
- Berry, Gerard T.;
- Brown, Matthew;
- Petrides, Stephanie;
- Afacan, Onur;
- Prabhu, Sanjay P.;
- Schomer, Donald;
- Grant, P. Ellen;
- Greenstein, Patricia E.
Publication type:
Article
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1349, doi. 10.1002/jimd.12291
By:
- Haouari, Walid;
- Dubail, Johanne;
- Lounis‐Ouaras, Samra;
- Prada, Pierre;
- Bennani, Rizk;
- Roseau, Charles;
- Huber, Céline;
- Afenjar, Alexandra;
- Colin, Estelle;
- Vuillaumier‐Barrot, Sandrine;
- Seta, Nathalie;
- Foulquier, François;
- Poüs, Christian;
- Cormier‐Daire, Valérie;
- Bruneel, Arnaud
Publication type:
Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
By:
- Ng, Bobby G.;
- Eklund, Erik A.;
- Shiryaev, Sergey A.;
- Dong, Yin Y.;
- Abbott, Mary‐Alice;
- Asteggiano, Carla;
- Bamshad, Michael J.;
- Barr, Eileen;
- Bernstein, Jonathan A.;
- Chelakkadan, Shabeed;
- Christodoulou, John;
- Chung, Wendy K.;
- Ciliberto, Michael A.;
- Cousin, Janice;
- Gardiner, Fiona;
- Ghosh, Suman;
- Graf, William D.;
- Grunewald, Stephanie;
- Hammond, Katherine;
- Hauser, Natalie S.
Publication type:
Article
Long term outcome of MPI‐CDG patients on D‐mannose therapy.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1360, doi. 10.1002/jimd.12289
By:
- Girard, Muriel;
- Douillard, Claire;
- Debray, Dominique;
- Lacaille, Florence;
- Schiff, Manuel;
- Vuillaumier‐Barrot, Sandrine;
- Dupré, Thierry;
- Fabre, Monique;
- Damaj, Lena;
- Kuster, Alice;
- Torre, Stéphanie;
- Mention, Karine;
- McLin, Valérie;
- Dobbelaere, Dries;
- Borgel, Delphine;
- Bauchard, Eric;
- Seta, Nathalie;
- Bruneel, Arnaud;
- De Lonlay, Pascale
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1, doi. 10.1002/jimd.12122
Publication type:
Article
Cardiac tissue citric acid cycle intermediates in exercised very long‐chain acyl‐CoA dehydrogenase‐deficient mice fed triheptanoin or medium‐chain triglyceride.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1232, doi. 10.1002/jimd.12284
By:
- Gaston, Garen;
- Gangoiti, Jon A.;
- Winn, Shelley;
- Chan, Benjamin;
- Barshop, Bruce A.;
- Harding, Cary O.;
- Gillingham, Melanie B.
Publication type:
Article
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1382, doi. 10.1002/jimd.12255
By:
- Mohamed, Miski;
- Gardeitchik, Thatjana;
- Balasubramaniam, Shanti;
- Guerrero‐Castillo, Sergio;
- Dalloyaux, Daisy;
- Kraaij, Sanne;
- Venselaar, Hanka;
- Hoischen, Alexander;
- Urban, Zsolt;
- Brandt, Ulrich;
- Al‐Shawi, Raya;
- Simons, J. Paul;
- Frison, Michele;
- Ngu, Lock‐Hock;
- Callewaert, Bert;
- Spelbrink, Hans;
- Kallemeijn, Wouter W.;
- Aerts, Johannes M. F. G.;
- Waugh, Mark G.;
- Morava, Eva
Publication type:
Article
Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1154, doi. 10.1002/jimd.12276
By:
- Leandro, João;
- Dodatko, Tetyana;
- DeVita, Robert J.;
- Chen, Hongjie;
- Stauffer, Brandon;
- Yu, Chunli;
- Houten, Sander M.
Publication type:
Article
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
By:
- Staps, Pippa;
- Rizzo, William B.;
- Vaz, Frédéric M.;
- Bugiani, Marianna;
- Giera, Martin;
- Heijs, Bram;
- Kampen, Antoine H. C.;
- Pras‐Raves, Mia L.;
- Breur, Marjolein;
- Groen, Annemieke;
- Ferdinandusse, Sacha;
- Graaf, Marinette;
- Van Goethem, Gert;
- Lammens, Martin;
- Wevers, Ron A.;
- Willemsen, Michèl A. A. P.
Publication type:
Article
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1254, doi. 10.1002/jimd.12274
By:
- Ramond, Francis;
- Rio, Marlène;
- Héron, Bénédicte;
- Imbard, Apolline;
- Marie, Sandrine;
- Billiemaz, Kareen;
- Denommé‐Pichon, Anne‐Sophie;
- Kuentz, Paul;
- Ceballos, Irène;
- Piraud, Monique;
- Vincent, Marie‐Françoise;
- Touraine, Renaud
Publication type:
Article
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1310, doi. 10.1002/jimd.12273
By:
- Jansen, Jos C.;
- Hoek, Bart;
- Metselaar, Herold J.;
- Berg, Aad P.;
- Zijlstra, Fokje;
- Huijben, Karin;
- Scherpenzeel, Monique;
- Drenth, Joost P. H.;
- Lefeber, Dirk J.
Publication type:
Article
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1219, doi. 10.1002/jimd.12272
By:
- Semplicini, Claudio;
- De Antonio, Marie;
- Taouagh, Nadjib;
- Béhin, Anthony;
- Bouhour, Françoise;
- Echaniz‐Laguna, Andoni;
- Magot, Armelle;
- Nadaj‐Pakleza, Aleksandra;
- Orlikowski, David;
- Sacconi, Sabrina;
- Salort‐Campana, Emmanuelle;
- Solé, Guilhem;
- Tard, Céline;
- Zagnoli, Fabien;
- Hogrel, Jean‐Yves;
- Hamroun, Dalil;
- Laforêt, Pascal
Publication type:
Article
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1243, doi. 10.1002/jimd.12268
By:
- Poelman, Esther;
- Dorpel, Jan J. A.;
- Hoogeveen‐Westerveld, Marianne;
- Hout, Johanna M. P.;
- Giessen, Lianne J.;
- Beek, Nadine A. M. E.;
- Pijnappel, W. W. M. Pim;
- Ploeg, Ans T.
Publication type:
Article