Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 4

Results: 25

News and views.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 647, doi. 10.1002/jimd.12263

By:

Wanders, Ronald J. A.;
Karnebeek, Clara D. M.;
Jans, Judith J. M.;
Verhoeven, Nanda M.;
Houten, Sander M.

Publication type:

Article

News and views.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 651, doi. 10.1002/jimd.12252

By:

Houten, Sander M.;
Argmann, Carmen

Publication type:

Article

View from inside: Nina, Glycogen storage disease warrior.

Published in:: Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 653, doi. 10.1002/jimd.12246
Publication type:: Article

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 671, doi. 10.1002/jimd.12241

By:

Čechová, Anna;
Altassan, Ruqaiah;
Borgel, Delphine;
Bruneel, Arnaud;
Correia, Joana;
Girard, Muriel;
Harroche, Annie;
Kiec‐Wilk, Beata;
Mohnike, Klaus;
Pascreau, Tiffany;
Pawliński, Łukasz;
Radenkovic, Silvia;
Vuillaumier‐Barrot, Sandrine;
Aldamiz‐Echevarria, Luis;
Couce, Maria Luz;
Martins, Esmeralda G.;
Quelhas, Dulce;
Morava, Eva;
Lonlay, Pascale;
Witters, Peter

Publication type:

Article

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 694, doi. 10.1002/jimd.12237

By:

Ondruskova, Nina;
Honzik, Tomas;
Vondrackova, Alzbeta;
Stranecky, Viktor;
Tesarova, Marketa;
Zeman, Jiri;
Hansikova, Hana

Publication type:

Article

A yeast‐based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 758, doi. 10.1002/jimd.12227

By:

Sirr, Amy;
Lo, Russell S.;
Cromie, Gareth A.;
Scott, Adrian C.;
Ashmead, Julee;
Heyesus, Mirutse;
Dudley, Aimée M.

Publication type:

Article

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 852, doi. 10.1002/jimd.12226

By:

Stadt, Stephanie I. W.;
Ballegoij, Wouter J. C.;
Labounek, René;
Huffnagel, Irene C.;
Kemp, Stephan;
Nestrasil, Igor;
Engelen, Marc

Publication type:

Article

An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 880, doi. 10.1002/jimd.12225

By:

Brucker, William J.;
Croteau, Stacy E.;
Prensner, John R.;
Cullion, Kate;
Heeney, Matthew M.;
Lo, Jeffrey;
McAlvin, James B.;
Peeler, Katherine;
Shah, Nidhi;
Yee, Christina S. K.;
Berry, Gerard T.;
Bodamer, Olaf

Publication type:

Article

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224

By:

Rossi, Alessandro;
Hoogeveen, Irene J.;
Bastek, Vanessa B.;
Boer, Foekje;
Montanari, Chiara;
Meyer, Uta;
Maiorana, Arianna;
Bordugo, Andrea;
Dianin, Alice;
Campana, Carmen;
Rigoldi, Miriam;
Kishnani, Priya S.;
Pendyal, Surekha;
Strisciuglio, Pietro;
Gasperini, Serena;
Parenti, Giancarlo;
Parini, Rossella;
Paci, Sabrina;
Melis, Daniela;
Derks, Terry G. J.

Publication type:

Article

Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 778, doi. 10.1002/jimd.12223

By:

Løkken, Nicoline;
Hansen, Kit K.;
Storgaard, Jesper H.;
Ørngreen, Mette C.;
Quinlivan, Ros;
Vissing, John

Publication type:

Article

A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 861, doi. 10.1002/jimd.12222

By:

Stiers, Kyle M.;
Hansen, Reed P.;
Daghlas, Bana A.;
Mason, Kelly N.;
Zhu, Jian‐She;
Jakeman, David L.;
Beamer, Lesa J.

Publication type:

Article

Expanding the molecular and clinical phenotypes of FUT8‐CDG.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221

By:

Ng, Bobby G.;
Dastsooz, Hassan;
Silawi, Mohammad;
Habibzadeh, Parham;
Jahan, Shima B.;
Fard, Mohammad A. F.;
Halliday, Benjamin J.;
Raymond, Kimiyo;
Ruzhnikov, Maura R. Z.;
Tabatabaei, Zahra;
Taghipour‐Sheshdeh, Afsaneh;
Brimble, Elise;
Robertson, Stephen P.;
Faghihi, Mohammad A.;
Freeze, Hudson H.

Publication type:

Article

Δ<sup>1</sup>‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 657, doi. 10.1002/jimd.12220

By:

Marco‐Marín, Clara;
Escamilla‐Honrubia, Juan M.;
Llácer, José L.;
Seri, Marco;
Panza, Emanuele;
Rubio, Vicente

Publication type:

Article

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 843, doi. 10.1002/jimd.12219

By:

Claesen, Joep L. A.;
Koomen, Erik;
Schene, Imre F.;
Jans, Judith J. M.;
Mast, Natalia;
Pikuleva, Irina A.;
Ham, Maria;
Velden, Monique G. M.;
Fuchs, Sabine A.

Publication type:

Article

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 819, doi. 10.1002/jimd.12218

By:

Ogawa, Erika;
Fushimi, Takuya;
Ogawa‐Tominaga, Minako;
Shimura, Masaru;
Tajika, Makiko;
Ichimoto, Keiko;
Matsunaga, Ayako;
Tsuruoka, Tomoko;
Ishige, Mika;
Fuchigami, Tatsuo;
Yamazaki, Taro;
Kishita, Yoshihito;
Kohda, Masakazu;
Imai‐Okazaki, Atsuko;
Okazaki, Yasushi;
Morioka, Ichiro;
Ohtake, Akira;
Murayama, Kei

Publication type:

Article

Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217

By:

Bleeker, Jeannette C.;
Visser, Gepke;
Clarke, Kieran;
Ferdinandusse, Sacha;
Haan, Ferdinand H.;
Houtkooper, Riekelt H.;
IJlst, Lodewijk;
Kok, Irene L.;
Langeveld, Mirjam;
Pol, W. Ludo;
Sain‐van der Velden, Monique G. M.;
Sibeijn‐Kuiper, Anita;
Takken, Tim;
Wanders, Ronald J. A.;
Weeghel, Michel;
Wijburg, Frits A.;
Woude, Luc H.;
Wüst, Rob C. I.;
Cox, Pete J.;
Jeneson, Jeroen A. L.

Publication type:

Article

Oxygen and nitrite reduction by heme‐deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 748, doi. 10.1002/jimd.12216

By:

Bender, Daniel;
Kaczmarek, Alexander T.;
Kuester, Sabina;
Burlina, Alberto B.;
Schwarz, Guenter

Publication type:

Article

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat‐ and Gamt‐mice attributed to creatine depletion and guanidinoacetate alteration.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 827, doi. 10.1002/jimd.12215

By:

Sinha, Ankit;
Ahmed, Sohail;
George, Chris;
Tsagaris, Melina;
Naufer, Amriya;
Both, Ingo;
Tkachyova, Ilona;
Eede, Matthijs;
Henkelman, Mark;
Schulze, Andreas

Publication type:

Article

Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 891, doi. 10.1002/jimd.12214

By:

Boehm, Thomas;
Hubmann, Holger;
Petroczi, Karin;
Mathis, Déborah;
Klavins, Kristaps;
Fauler, Guenter;
Plecko, Barbara;
Struys, Eduard;
Jilma, Bernd

Publication type:

Article

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 712, doi. 10.1002/jimd.12213

By:

Klinke, Glynis;
Richter, Sylvia;
Monostori, Péter;
Schmidt‐Mader, Brigitte;
García‐Cazorla, Angels;
Artuch, Rafael;
Christ, Stine;
Opladen, Thomas;
Hoffmann, Georg F.;
Blau, Nenad;
Okun, Jürgen G.

Publication type:

Article

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal ME;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
Coo, I. F. M;
Pias‐Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 701, doi. 10.1002/jimd.12201

By:

Haijes, Hanneke A.;
Jaeken, Jaak;
Hasselt, Peter M.

Publication type:

Article

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196

By:

De Vries, Maaike C.;
Brown, David A.;
Allen, Mitchell E.;
Bindoff, Laurence;
Gorman, Gráinne S.;
Karaa, Amel;
Keshavan, Nandaki;
Lamperti, Costanza;
McFarland, Robert;
Ng, Yi Shiau;
O'Callaghan, Mar;
Pitceathly, Robert D. S.;
Rahman, Shamima;
Russel, Frans G. M.;
Varhaug, Kristin N.;
Schirris, Tom J. J.;
Mancuso, Michelangelo

Publication type:

Article

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 737, doi. 10.1002/jimd.12181

By:

Ranganath, Lakshminarayan R.;
Milan, Anna M.;
Hughes, Andrew T.;
Khedr, Milad;
Davison, Andrew S.;
Shweihdi, Ella;
Norman, Brendan P.;
Hughes, Juliette H.;
Bygott, Helen;
Luangrath, Emily;
Fitzgerald, Richard;
Psarelli, Eftychia E.;
Kan, Christa;
Laan, Dinny;
Olsson, Birgitta;
Rudebeck, Mattias;
Mankowitz, Louise;
Sireau, Nicolas;
Arnoux, Jean‐Baptiste;
Le Quan Sang, Kim‐Hanh

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 1, doi. 10.1002/jimd.12118
Publication type:: Article