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

Results: 17

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

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

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

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

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

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

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

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

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

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

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