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

Results: 19

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
Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 286, doi. 10.1002/jimd.12583
By:
- Lissing, Mattias;
- Vassiliou, Daphne;
- Floderus, Ylva;
- Harper, Pauline;
- Yan, Jacinth;
- Hagström, Hannes;
- Sardh, Eliane;
- Wahlin, Staffan
Publication type:
Article
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 273, doi. 10.1002/jimd.12582
By:
- Abe, Yuichi;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Mandel, Hanna;
- Falik‐Zaccai, Tzipora C.;
- Ishihara, Naotada;
- Fujiki, Yukio
Publication type:
Article
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
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 206, doi. 10.1002/jimd.12597
By:
- Hagemeijer, Marne C.;
- van den Bosch, Jeroen C.;
- Bongaerts, Michiel;
- Jacobs, Edwin H.;
- van den Hout, Johanna M. P.;
- Oussoren, Esmee;
- Ruijter, George J. G.
Publication type:
Article
The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 159, doi. 10.1002/jimd.12601
By:
- Radenkovic, Silvia;
- Laerdahl, Jon K.;
- Backe, Paul H.;
- Morava, Eva
Publication type:
Article
Validation of a targeted metabolomics panel for improved second‐tier newborn screening.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 194, doi. 10.1002/jimd.12591
By:
- Mak, Justin;
- Peng, Gang;
- Le, Anthony;
- Gandotra, Neeru;
- Enns, Gregory M.;
- Scharfe, Curt;
- Cowan, Tina M.
Publication type:
Article
Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 174, doi. 10.1002/jimd.12581
By:
- Pierpont, Elizabeth I.;
- Isaia, Ashley R.;
- McCoy, Erin;
- Brown, Sarah J.;
- Gupta, Ashish O.;
- Eisengart, Julie B.
Publication type:
Article
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
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 163, doi. 10.1002/jimd.12590
By:
- De Feyter, S.;
- Beyens, A.;
- Callewaert, B.
Publication type:
Article
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
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
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 348, doi. 10.1002/jimd.12587
By:
- Nenninger, Ariel;
- Ben‐Shlomo, Gil;
- Allbaugh, Rachel;
- Valentine, Bethann;
- Snella, Elizabeth;
- Jens, Jackie;
- Ellinwood, N. Matthew;
- Smith, Jodi
Publication type:
Article
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
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 358, doi. 10.1002/jimd.12579
By:
- Asadi, Paria;
- Milev, Miroslav P.;
- Saint‐Dic, Djenann;
- Gamberi, Chiara;
- Sacher, Michael
Publication type:
Article
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 335, doi. 10.1002/jimd.12577
By:
- Sorrentino, Nicolina Cristina;
- Presa, Maximiliano;
- Attanasio, Sergio;
- Cacace, Vincenzo;
- Sofia, Martina;
- Zuberi, Aamir;
- Ryan, Jennifer;
- Ray, Somdatta;
- Petkovic, Igor;
- Radhakrishnan, Karthikeyan;
- Schlotawa, Lars;
- Ballabio, Andrea;
- Lutz, Cathleen;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 243, doi. 10.1002/jimd.12578
By:
- Wahedi, Azizia;
- Soondram, Chandika;
- Murphy, Alan E.;
- Skene, Nathan;
- Rahman, Shamima
Publication type:
Article
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
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 1, doi. 10.1002/jimd.12516
Publication type:
Article