Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 2

Results: 17

Fatal cervical myelopathy in a child with glutaric aciduria type 1.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 217, doi. 10.1002/jimd.12716
By:
- Chauvet, Eline;
- Ribeiro, Diana;
- Kern, Ilse;
- Fluss, Joel
Publication type:
Article
Open‐label, single‐center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 355, doi. 10.1002/jimd.12715
By:
- Bratkovic, Drago;
- Gravance, Curtis;
- Ketteridge, David;
- Krishnan, Ravi;
- Navuru, Divya;
- Sheehan, Michael;
- Skerrett, Donna;
- Imperiale, Michael
Publication type:
Article
Folate receptor α deficiency – Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 387, doi. 10.1002/jimd.12713
By:
- Dreha‐Kulaczewski, Steffi;
- Sahoo, Prativa;
- Preusse, Matthias;
- Gkalimani, Irini;
- Dechent, Peter;
- Helms, Gunther;
- Hofer, Sabine;
- Steinfeld, Robert;
- Gärtner, Jutta
Publication type:
Article
Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 244, doi. 10.1002/jimd.12714
By:
- Derks, Terry G. J.;
- Venema, Annieke;
- Köller, Clara;
- Bos, Eline;
- Overduin, Ruben J.;
- Stolwijk, Nina N.;
- Hofbauer, Peter;
- Bolhuis, Mathieu S.;
- van Eenennaam, Fred;
- Groen, Henk;
- Hollak, Carla E. M.;
- Wortmann, Saskia B.
Publication type:
Article
Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 302, doi. 10.1002/jimd.12698
By:
- Politiek, Frouwkje A.;
- Turkenburg, Marjolein;
- Koster, Janet;
- Ofman, Rob;
- Waterham, Hans R.
Publication type:
Article
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
By:
- Aldrian, Denise;
- Waldner, Birgit;
- Vogel, Georg F.;
- El‐Gharbawy, Areeg H.;
- McKiernan, Patrick;
- Vockley, Jerard;
- Landau, Yuval E.;
- Al Mutairi, Fuad;
- Stepien, Karolina M.;
- Kwok, Anne Mei‐Kwun;
- Yıldız, Yılmaz;
- Honzik, Tomas;
- Kelifova, Silvie;
- Ellaway, Carolyn;
- Lund, Allan M.;
- Mori, Mari;
- Grünert, Sarah C.;
- Scholl‐Bürgi, Sabine;
- Zöggeler, Thomas;
- Oberhuber, Rupert
Publication type:
Article
Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 280, doi. 10.1002/jimd.12711
By:
- Garrelfs, Sander F.;
- Chornyi, Serhii;
- te Brinke, Heleen;
- Ruiter, Jos;
- Groothoff, Jaap;
- Wanders, Ronald J. A.
Publication type:
Article
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 317, doi. 10.1002/jimd.12705
By:
- Liang, Huan;
- Zhan, Xia;
- Wang, Yu;
- Maegawa, Gustavo H. B.;
- Zhang, Huiwen
Publication type:
Article
Increased neurotoxicity of high‐density lipoprotein secreted from murine reactive astrocytes deficient in a peroxisomal very‐long‐chain fatty acid transporter Abcd1.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 289, doi. 10.1002/jimd.12703
By:
- Fujitani, Naoki;
- Akashi, Tomoya;
- Saito, Masayoshi;
- Morita, Masashi;
- So, Takanori;
- Oka, Kozo
Publication type:
Article
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 327, doi. 10.1002/jimd.12700
By:
- Májovská, Jitka;
- Nestrašil, Igor;
- Ahmed, Alia;
- Bondy, Monica T.;
- Klempíř, Jiří;
- Jahnová, Helena;
- Schneider, Susanne A.;
- Horáková, Dana;
- Krásenský, Jan;
- Ješina, Pavel;
- Vaneckova, Manuela;
- Nascene, David R.;
- Whitley, Chester B.;
- Jarnes, Jeanine R.;
- Magner, Martin;
- Dušek, Petr
Publication type:
Article
Drosophila melanogaster models of MPS IIIC (Hgsnat‐deficiency) highlight the role of glia in disease presentation.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 340, doi. 10.1002/jimd.12712
By:
- Hewson, Laura;
- Choo, Amanda;
- Webber, Dani L.;
- Trim, Paul J.;
- Snel, Marten F.;
- Fedele, Anthony O.;
- Hopwood, John J.;
- Hemsley, Kim M.;
- O'Keefe, Louise V.
Publication type:
Article
Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by <sup>1</sup>H HR‐MAS NMR.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 270, doi. 10.1002/jimd.12696
By:
- Meyer, Christoph;
- Hertig, Damian;
- Arnold, Janine;
- Urzi, Christian;
- Kurth, Sandra;
- Mayr, Johannes A.;
- Schaller, André;
- Vermathen, Peter;
- Nuoffer, Jean‐Marc
Publication type:
Article
Transmembrane helix 6 of ABCD4 is indispensable for cobalamin transport.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 366, doi. 10.1002/jimd.12694
By:
- Imai, Momoka;
- Kawaguchi, Kosuke;
- Morita, Masashi;
- Imanaka, Tsuneo;
- So, Takanori
Publication type:
Article
NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 230, doi. 10.1002/jimd.12693
By:
- Becker, Ivonne;
- Wang‐Eckhardt, Lihua;
- Eckhardt, Matthias
Publication type:
Article
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 255, doi. 10.1002/jimd.12692
By:
- Lefèvre, Charles R.;
- Collardeau‐Frachon, Sophie;
- Streichenberger, Nathalie;
- Berenguer‐Martin, Sophie;
- Clémenson, Alix;
- Massardier, Jérôme;
- Prieur, Fabienne;
- Laurichesse, Hélène;
- Laffargue, Fanny;
- Acquaviva‐Bourdain, Cécile;
- Froissart, Roseline;
- Pettazzoni, Magali
Publication type:
Article
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 374, doi. 10.1002/jimd.12688
By:
- Adang, Laura A.;
- Mowafy, Samar;
- Herbst, Zackary M.;
- Zhou, Zitao;
- Schlotawa, Lars;
- Radhakrishnan, Karthikeyan;
- Bentley, Brenna;
- Pham, Vi;
- Yu, Emily;
- Pillai, Nishitha R.;
- Orchard, Paul J.;
- De Castro, Mauricio;
- Vanderver, Adeline;
- Pasquali, Marzia;
- Gelb, Michael H.;
- Ahrens‐Nicklas, Rebecca C.
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 1, doi. 10.1002/jimd.12628
Publication type:
Article