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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 240, doi. 10.1002/jimd.12309
By:
- Velasco, Kelly;
- St‐Louis, Johanna L.;
- Hovland, Henrikke N.;
- Thompson, Nels;
- Ottesen, Åsta;
- Choi, Man Hung;
- Pedersen, Line;
- Njølstad, Pål R.;
- Arnesen, Thomas;
- Fjeld, Karianne;
- Aukrust, Ingvild;
- Myklebust, Line M.;
- Molven, Anders
Publication type:
Article
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 193, doi. 10.1002/jimd.12297
By:
- Hörster, Friederike;
- Tuncel, Ali Tunç;
- Gleich, Florian;
- Plessl, Tanja;
- Froese, Sean D.;
- Garbade, Sven F.;
- Kölker, Stefan;
- Baumgartner, Matthias R.
Publication type:
Article
Quantitative retrospective natural history modeling for orphan drug development.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 99, doi. 10.1002/jimd.12304
By:
- Garbade, Sven F.;
- Zielonka, Matthias;
- Komatsuzaki, Shoko;
- Kölker, Stefan;
- Hoffmann, Georg F.;
- Hinderhofer, Katrin;
- Mountford, William K.;
- Mengel, Eugen;
- Sláma, Tomáš;
- Mechler, Konstantin;
- Ries, Markus
Publication type:
Article
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 42, doi. 10.1002/jimd.12283
By:
- Gavrilovici, Cezar;
- Rho, Jong M.
Publication type:
Article
Moving towards clinical trials for mitochondrial diseases.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 22, doi. 10.1002/jimd.12281
By:
- Pitceathly, Robert D.S.;
- Keshavan, Nandaki;
- Rahman, Joyeeta;
- Rahman, Shamima
Publication type:
Article
"Building bridges"—An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 1, doi. 10.1002/jimd.12352
By:
- Ploeg, Ans T.
Publication type:
Article
Atlas of inherited metabolic diseases (Hardcover and e‐Book).
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 284, doi. 10.1002/jimd.12351
By:
- Burgard, Peter
Publication type:
Article
Unlocking the Treatment for PKU Brewin Books.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 282, doi. 10.1002/jimd.12350
By:
- Burgard, Peter;
- Hoffmann, Georg F.
Publication type:
Article
An international classification of inherited metabolic disorders (ICIMD).
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 164, doi. 10.1002/jimd.12348
By:
- Ferreira, Carlos R.;
- Rahman, Shamima;
- Keller, Markus;
- Zschocke, Johannes;
- Abdenur, Jose;
- Ali, Houda;
- Artuch, Rafael;
- Ballabio, Andrea;
- Barshop, Bruce;
- Baumgartner, Matthias;
- Bertini, Enrico Silvio;
- Blau, Nenad;
- Carelli, Valerio;
- Carroll, Christopher;
- Chinnery, Patrick F.;
- Christodoulou, John;
- Cornejo, Veronica;
- Darin, Niklas;
- Derks, Terry;
- Diodato, Daria
Publication type:
Article
View from inside: Rare diseases in the times of COVID19.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 2, doi. 10.1002/jimd.12334
By:
- Vockley, Jerry
Publication type:
Article
Author response: A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 8, doi. 10.1002/jimd.12333
By:
- Primiano, Guido;
- Servidei, Serenella
Publication type:
Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
By:
- Coughlin, Curtis R.;
- Tseng, Laura A.;
- Abdenur, Jose E.;
- Ashmore, Catherine;
- Boemer, François;
- Bok, Levinus A.;
- Boyer, Monica;
- Buhas, Daniela;
- Clayton, Peter T.;
- Das, Anibh;
- Dekker, Hanka;
- Evangeliou, Athanasios;
- Feillet, François;
- Footitt, Emma J.;
- Gospe, Sidney M.;
- Hartmann, Hans;
- Kara, Majdi;
- Kristensen, Erle;
- Lee, Joy;
- Lilje, Rina
Publication type:
Article
In Memoriam.
Published in:
2021
By:
- Van Hove, Johan L. K.;
- Thomas, Janet A.;
- McCandless, Shawn E.;
- Woontner, Michael;
- Coughlin, Curtis
Publication type:
Obituary
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
By:
- Bindoff, Laurence A.;
- Brown, David A.;
- Gorman, Gráinne S.;
- Karaa, Amel;
- Keshavan, Nandaki;
- Lamperti, Constanza;
- Mancuso, Michelangelo;
- McFarland, Robert;
- Ng, Yi Shiau;
- O'Callaghan, Mar;
- Pitceathly, Robert D. S.;
- Rahman, Shamima;
- Russel, Frans G. M.;
- Schirris, Tom J. J.;
- Varhaug, Kristin N.;
- De Vries, Maaike C.
Publication type:
Article
A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 4, doi. 10.1002/jimd.12328
By:
- Primiano, Guido;
- Servidei, Serenella
Publication type:
Article
DR ROBERT ANGUS HARKNESS MBCHB, PhD, FRCP(Ed), FRCPath, FRSC.
Published in:
2021
By:
- Addison, Michael
Publication type:
Obituary
Novel therapies for mucopolysaccharidosis type III.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 129, doi. 10.1002/jimd.12316
By:
- Seker Yilmaz, Berna;
- Davison, James;
- Jones, Simon A.;
- Baruteau, Julien
Publication type:
Article
Developments in evidence creation for treatments of inborn errors of metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 88, doi. 10.1002/jimd.12315
By:
- Stockler‐Ipsiroglu, Sylvia;
- Potter, Beth K.;
- Yuskiv, Nataliya;
- Tingley, Kylie;
- Patterson, Marc;
- Karnebeek, Clara
Publication type:
Article
Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 253, doi. 10.1002/jimd.12313
By:
- Vockley, Jerry;
- Burton, Barbara;
- Berry, Gerard;
- Longo, Nicola;
- Phillips, John;
- Sanchez‐Valle, Amarilis;
- Chapman, Kimberly;
- Tanpaiboon, Pranoot;
- Grunewald, Stephanie;
- Murphy, Elaine;
- Lu, Xiaoxiao;
- Cataldo, Jason
Publication type:
Article
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 272, doi. 10.1002/jimd.12311
By:
- Rasmussen, Shauna A.;
- Daenzer, Jennifer M. I.;
- Fridovich‐Keil, Judith L.
Publication type:
Article
Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype‐specific: An investigator‐initiated, randomized, crossover study.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 226, doi. 10.1002/jimd.12302
By:
- Hoogeveen, Irene J.;
- Boer, Foekje;
- Boonstra, Willemijn F.;
- Schaaf, Caroline J.;
- Steuerwald, Ulrike;
- Sibeijn‐Kuiper, Anita J.;
- Vegter, Riemer J. K.;
- Hoeven, Johannes H.;
- Heiner‐Fokkema, M. Rebecca;
- Clarke, Kieran C.;
- Cox, Pete J.;
- Derks, Terry G. J.;
- Jeneson, Jeroen A. L.
Publication type:
Article
A primer to gene therapy: Progress, prospects, and problems.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 54, doi. 10.1002/jimd.12270
By:
- Zittersteijn, Hidde A.;
- Gonçalves, Manuel A.F.V.;
- Hoeben, Rob C.
Publication type:
Article
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 215, doi. 10.1002/jimd.12301
By:
- Bösch, Florin;
- Landolt, Markus A.;
- Baumgartner, Matthias R.;
- Zeltner, Nina;
- Kölker, Stefan;
- Gleich, Florian;
- Burlina, Alberto;
- Cazzorla, Chiara;
- Packman, Wendy;
- V. D. Schwartz, Ida;
- Neto, Eduardo;
- Ribeiro, Márcia G.;
- Martinelli, Diego;
- Olivieri, Giorgia;
- Huemer, Martina
Publication type:
Article
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 148, doi. 10.1002/jimd.12286
By:
- Altassan, Ruqaiah;
- Radenkovic, Silvia;
- Edmondson, Andrew C.;
- Barone, Rita;
- Brasil, Sandra;
- Cechova, Anna;
- Coman, David;
- Donoghue, Sarah;
- Falkenstein, Kristina;
- Ferreira, Vanessa;
- Ferreira, Carlos;
- Fiumara, Agata;
- Francisco, Rita;
- Freeze, Hudson;
- Grunewald, Stephanie;
- Honzik, Tomas;
- Jaeken, Jaak;
- Krasnewich, Donna;
- Lam, Christina;
- Lee, Joy
Publication type:
Article
Metabolic basis and treatment of citrin deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 110, doi. 10.1002/jimd.12294
By:
- Hayasaka, Kiyoshi
Publication type:
Article
Detection of GM1‐gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 264, doi. 10.1002/jimd.12269
By:
- Su, Peiling;
- Khaledi, Hamid;
- Waggoner, Christine;
- Gelb, Michael H.
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 1, doi. 10.1002/jimd.12256
Publication type:
Article
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 9, doi. 10.1002/jimd.12254
By:
- Dimitrov, Bianca;
- Molema, Femke;
- Williams, Monique;
- Schmiesing, Jessica;
- Mühlhausen, Chris;
- Baumgartner, Matthias R.;
- Schumann, Anke;
- Kölker, Stefan
Publication type:
Article
Opportunities and challenges for antisense oligonucleotide therapies.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 72, doi. 10.1002/jimd.12251
By:
- Kuijper, Elsa C.;
- Bergsma, Atze J.;
- Pijnappel, W.W.M. Pim;
- Aartsma‐Rus, Annemieke
Publication type:
Article
Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 118, doi. 10.1002/jimd.12267
By:
- Cho, Jun‐Ho;
- Weinstein, David A.;
- Lee, Young Mok
Publication type:
Article

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