Works matching IS 01418955 AND DT 2023 AND VI 46 AND IP 2

Results: 19
    1
    2
    3
    4
    5
    6

    Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 300, doi. 10.1002/jimd.12589
    By:
    • Alharbi, Hana;
    • Daniel, Earnest James Paul;
    • Thies, Jenny;
    • Chang, Irene;
    • Goldner, Dana L.;
    • Ng, Bobby G.;
    • Witters, Peter;
    • Aqul, Amal;
    • Velez‐Bartolomei, Frances;
    • Enns, Gregory M.;
    • Hsu, Evelyn;
    • Kichula, Elizabeth;
    • Lee, Esther;
    • Lourenco, Charles;
    • Poskanzer, Sheri A.;
    • Rasmussen, Sara;
    • Saarela, Katelyn;
    • Wang, YunZu M.;
    • Raymond, Kimiyo M.;
    • Schultz, Matthew J.
    Publication type:
    Article
    7
    8

    Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
    By:
    • Dang Do, An N.;
    • Chang, Irene J.;
    • Jiang, Xutian;
    • Wolfe, Lynne A.;
    • Ng, Bobby G.;
    • Lam, Christina;
    • Schnur, Rhonda E.;
    • Allis, Katrina;
    • Hansikova, Hana;
    • Ondruskova, Nina;
    • O'Connor, Shawn D.;
    • Sanchez‐Valle, Amarilis;
    • Vollo, Arve;
    • Wang, Raymond Y.;
    • Wolfenson, Zoe;
    • Perreault, John;
    • Ory, Daniel S.;
    • Freeze, Hudson H.;
    • Merritt, J. Lawrence;
    • Porter, Forbes D.
    Publication type:
    Article
    9

    B‐complex vitamins for patients with TANGO2‐deficiency disorder.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 161, doi. 10.1002/jimd.12585
    By:
    • Sandkuhler, Sarah E.;
    • Zhang, Lilei;
    • Meisner, Joshua K.;
    • Ghaloul‐Gonzalez, Lina;
    • Beach, Cheyenne M.;
    • Harris, David;
    • de Lonlay, Pascale;
    • Lalani, Seema R.;
    • Miyake, Christina Y.;
    • Mackenzie, Samuel J.
    Publication type:
    Article
    10

    Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
    By:
    • Bravo‐Alonso, Irene;
    • Morin, Matías;
    • Arribas‐Carreira, Laura;
    • Álvarez, Mar;
    • Pedrón‐Giner, Consuelo;
    • Soletto, Lucia;
    • Santolaria, Carlos;
    • Ramón‐Maiques, Santiago;
    • Ugarte, Magdalena;
    • Rodríguez‐Pombo, Pilar;
    • Ariño, Joaquín;
    • Moreno‐Pelayo, Miguel Ángel;
    • Pérez, Belén
    Publication type:
    Article
    11
    12

    MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
    By:
    • Post, Merel A.;
    • de Wit, Isis;
    • Zijlstra, Fokje S. M.;
    • Engelke, Udo F. H.;
    • van Rooij, Arno;
    • Christodoulou, John;
    • Tan, Tiong Yang;
    • Le Fevre, Anna;
    • Jin, Danqun;
    • Yaplito‐Lee, Joy;
    • Lee, Beom Hee;
    • Low, Karen J.;
    • Mallick, Andrew A.;
    • Õunap, Katrin;
    • Pitt, James;
    • Reardon, William;
    • Vals, Mari‐Anne;
    • Wortmann, Saskia B.;
    • Wessels, Hans J. C. T.;
    • Bärenfänger, Melissa
    Publication type:
    Article
    13
    14

    Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 232, doi. 10.1002/jimd.12580
    By:
    • Daas, Suha;
    • Abu Salah, Nasser;
    • Anikster, Yair;
    • Barel, Ortal;
    • Damseh, Nadirah S.;
    • Dumin, Elena;
    • Fattal‐Valevski, Aviva;
    • Falik‐Zaccai, Tzipora C.;
    • Habib, Clair;
    • Josefsberg, Sagi;
    • Korman, Stanley H.;
    • Kneller, Katya;
    • Landau, Yuval;
    • Lerman‐Sagie, Tally;
    • Mandel, Hanna;
    • Manor, Yehoshua;
    • Moady Abdalla, Tameemi;
    • Rock, Rachel;
    • Rostami, Nira;
    • Saada, Ann
    Publication type:
    Article
    15
    16
    17
    18

    Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 220, doi. 10.1002/jimd.12572
    By:
    • Mütze, Ulrike;
    • Gleich, Florian;
    • Barić, Ivo;
    • Baumgartner, Mathias;
    • Burlina, Alberto;
    • Chapman, Kimberly A.;
    • Chien, Yin‐Hsiu;
    • Cortès‐Saladelafont, Elisenda;
    • De Laet, Corinne;
    • Dobbelaere, Dries;
    • Eysken, Francois;
    • Gautschi, Matthias;
    • Santer, Rene;
    • Häberle, Johannes;
    • Joaquín, Clara;
    • Karall, Daniela;
    • Lindner, Martin;
    • Lund, Allan M.;
    • Mühlhausen, Chris;
    • Murphy, Elaine
    Publication type:
    Article
    19

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 1, doi. 10.1002/jimd.12516
    Publication type:
    Article