Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 4

Results: 27

Acute intermittent porphyria, givosiran, and homocysteine.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 790, doi. 10.1002/jimd.12411
By:
- Fontanellas, Antonio;
- Ávila, Matías A.;
- Arranz, Elena;
- Enríquez de Salamanca, Rafael;
- Morales‐Conejo, Montserrat
Publication type:
Article
The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 789, doi. 10.1002/jimd.12409
By:
- Brennenstuhl, Heiko;
- Christ, Stine;
- Kock, Vanessa
Publication type:
Article
Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020).
Published in:
2021
By:
- Giżewska, Maria;
- Levy, Harvey;
- Milanowski, Andrzej;
- Żółkowska, Joanna
Publication type:
Obituary
Inborn disorders of the malate aspartate shuttle.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 792, doi. 10.1002/jimd.12402
By:
- Broeks, Melissa H.;
- Karnebeek, Clara D. M.;
- Wanders, Ronald J. A.;
- Jans, Judith J. M.;
- Verhoeven‐Duif, Nanda M.
Publication type:
Article
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 961, doi. 10.1002/jimd.12391
By:
- To‐Figueras, Jordi;
- Wijngaard, Robin;
- García‐Villoria, Judit;
- Aarsand, Aasne K.;
- Aguilera, Paula;
- Deulofeu, Ramon;
- Brunet, Mercè;
- Gómez‐Gómez, Àlex;
- Pozo, Oscar J.;
- Sandberg, Sverre
Publication type:
Article
Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 838, doi. 10.1002/jimd.12390
By:
- Arai‐Ichinoi, Natsuko;
- Kikuchi, Atsuo;
- Wada, Yoichi;
- Sakamoto, Osamu;
- Kure, Shigeo
Publication type:
Article
Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 949, doi. 10.1002/jimd.12387
By:
- Ni, Min;
- Black, Lauren F.;
- Pan, Chunxiao;
- Vu, Hieu;
- Pei, Jimin;
- Ko, Bookyung;
- Cai, Ling;
- Solmonson, Ashley;
- Yang, Chendong;
- Nugent, Kimberly M.;
- Grishin, Nick V.;
- Xing, Chao;
- Roeder, Elizabeth;
- DeBerardinis, Ralph J.
Publication type:
Article
Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 826, doi. 10.1002/jimd.12384
By:
- Kido, Jun;
- Matsumoto, Shirou;
- Häberle, Johannes;
- Nakajima, Yoko;
- Wada, Yoichi;
- Mochizuki, Narutaka;
- Murayama, Kei;
- Lee, Tomoko;
- Mochizuki, Hiroshi;
- Watanabe, Yoriko;
- Horikawa, Reiko;
- Kasahara, Mureo;
- Nakamura, Kimitoshi
Publication type:
Article
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 879, doi. 10.1002/jimd.12380
By:
- Hoogerland, Joanne A.;
- Peeks, Fabian;
- Hijmans, Brenda S.;
- Wolters, Justina C.;
- Kooijman, Sander;
- Bos, Trijnie;
- Bleeker, Aycha;
- Dijk, Theo H.;
- Wolters, Henk;
- Gerding, Albert;
- Eunen, Karen;
- Havinga, Rick;
- Pronk, Amanda C. M.;
- Rensen, Patrick C. N.;
- Mithieux, Gilles;
- Rajas, Fabienne;
- Kuipers, Folkert;
- Reijngoud, Dirk‐Jan;
- Derks, Terry G. J.;
- Oosterveer, Maaike H.
Publication type:
Article
In a mouse model of INCL reduced S‐palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1051, doi. 10.1002/jimd.12379
By:
- Sadhukhan, Tamal;
- Bagh, Maria B.;
- Appu, Abhilash P.;
- Mondal, Avisek;
- Zhang, Wei;
- Liu, Aiyi;
- Mukherjee, Anil B.
Publication type:
Article
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1001, doi. 10.1002/jimd.12378
By:
- Alsharhan, Hind;
- He, Miao;
- Edmondson, Andrew C.;
- Daniel, Earnest J. P.;
- Chen, Jie;
- Donald, Tyhiesia;
- Bakhtiari, Somayeh;
- Amor, David J.;
- Jones, Elizabeth A.;
- Vassallo, Grace;
- Vincent, Marie;
- Cogné, Benjamin;
- Deb, Wallid;
- Werners, Arend H.;
- Jin, Sheng C.;
- Bilguvar, Kaya;
- Christodoulou, John;
- Webster, Richard I.;
- Yearwood, Katherine R.;
- Ng, Bobby G.
Publication type:
Article
Hand fine motor control in classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 871, doi. 10.1002/jimd.12376
By:
- MacWilliams, Jessica;
- Patel, Sneh;
- Carlock, Grace;
- Vest, Sarah;
- Potter, Nancy L.;
- Fridovich‐Keil, Judith L.
Publication type:
Article
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1039, doi. 10.1002/jimd.12373
By:
- Schumann, Anke;
- Schaller, Kristin;
- Belche, Véronique;
- Cybulla, Markus;
- Grünert, Sarah C.;
- Moers, Nicolai;
- Sass, Jörn O.;
- Kaech, Andres;
- Hannibal, Luciana;
- Spiekerkoetter, Ute
Publication type:
Article
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 893, doi. 10.1002/jimd.12372
By:
- Grünert, Sarah C.;
- Eckenweiler, Matthias;
- Haas, Dorothea;
- Lindner, Martin;
- Tsiakas, Konstantinos;
- Santer, René;
- Tucci, Sara;
- Spiekerkoetter, Ute
Publication type:
Article
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 903, doi. 10.1002/jimd.12371
By:
- Ryder, Bryony;
- Inbar‐Feigenberg, Michal;
- Glamuzina, Emma;
- Halligan, Rebecca;
- Vara, Roshni;
- Elliot, Aoife;
- Coman, David;
- Minto, Tahlee;
- Lewis, Katherine;
- Schiff, Manuel;
- Vijay, Suresh;
- Akroyd, Rhonda;
- Thompson, Sue;
- MacDonald, Anita;
- Woodward, Abigail J. M.;
- Gribben, Joanne. E. L.;
- Grunewald, Stephanie;
- Belaramani, Kiran;
- Hall, Madeleine;
- Haak, Natalie
Publication type:
Article
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1021, doi. 10.1002/jimd.12349
By:
- Fallatah, Wedad;
- Schouten, Monica;
- Yergeau, Christine;
- Di Pietro, Erminia;
- Engelen, Marc;
- Waterham, Hans R.;
- Poll‐The, Bwee Tien;
- Braverman, Nancy
Publication type:
Article
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 847, doi. 10.1002/jimd.12343
By:
- Diaz, George A.;
- Schulze, Andreas;
- McNutt, Markey C.;
- Leão‐Teles, Elisa;
- Merritt, J. Lawrence;
- Enns, Gregory M.;
- Batzios, Spyros;
- Bannick, Allison;
- Zori, Roberto T.;
- Sloan, Leslie S.;
- Potts, Susan L.;
- Bubb, Gillian;
- Quinn, Anthony G.
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1, doi. 10.1002/jimd.12259
Publication type:
Article
Inherited disorders of complex lipid metabolism: A clinical review.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 809, doi. 10.1002/jimd.12369
By:
- Xiao, Changrui;
- Rossignol, Francis;
- Vaz, Frédéric M.;
- Ferreira, Carlos R.
Publication type:
Article
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
By:
- Tucci, Sara;
- Wagner, Christine;
- Grünert, Sarah C.;
- Matysiak, Uta;
- Weinhold, Natalie;
- Klein, Jeannette;
- Porta, Francesco;
- Spada, Marco;
- Bordugo, Andrea;
- Rodella, Giulia;
- Furlan, Francesca;
- Sajeva, Anna;
- Menni, Francesca;
- Spiekerkoetter, Ute
Publication type:
Article
Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
By:
- Alsharhan, Hind;
- Ng, Bobby G.;
- Daniel, Earnest James Paul;
- Friedman, Jennifer;
- Pivnick, Eniko K.;
- Al‐Hashem, Amal;
- Faqeih, Eissa Ali;
- Liu, Pengfei;
- Engelhardt, Nicole M.;
- Keller, Kierstin N.;
- Chen, Jie;
- Mazzeo, Pamela A.;
- Rosenfeld, Jill A.;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Raymond, Kimiyo M.;
- Freeze, Hudson H.;
- He, Miao;
- Edmondson, Andrew C.;
- Lam, Christina
Publication type:
Article
Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1013, doi. 10.1002/jimd.12366
By:
- Abdennadher, Myriam;
- Inati, Sara;
- Soldatos, Ariane;
- Norato, Gina;
- Baker, Eva H.;
- Thurm, Audrey;
- Bartolini, Luca;
- Masvekar, Ruturaj;
- Theodore, William;
- Bielekova, Bibiana;
- Porter, Forbes D.;
- Dang Do, An N.
Publication type:
Article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
By:
- Rijt, Willemijn J.;
- Van Hove, Johan L. K.;
- Vaz, Frédéric M.;
- Havinga, Rick;
- Allersma, Derk P.;
- Zijp, Tanja R.;
- Bedoyan, Jirair K.;
- Heiner‐Fokkema, M. R.;
- Reijngoud, Dirk‐Jan;
- Geraghty, Michael T.;
- Wanders, Ronald J. A.;
- Oosterveer, Maaike H.;
- Derks, Terry G. J.
Publication type:
Article
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 857, doi. 10.1002/jimd.12364
By:
- Mütze, Ulrike;
- Henze, Lucy;
- Gleich, Florian;
- Lindner, Martin;
- Grünert, Sarah C.;
- Spiekerkoetter, Ute;
- Santer, René;
- Blessing, Holger;
- Thimm, Eva;
- Ensenauer, Regina;
- Weigel, Johannes;
- Beblo, Skadi;
- Arélin, Maria;
- Hennermann, Julia B.;
- Marquardt, Thorsten;
- Marquardt, Iris;
- Freisinger, Peter;
- Krämer, Johannes;
- Dieckmann, Andrea;
- Weinhold, Natalie
Publication type:
Article
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1070, doi. 10.1002/jimd.12360
By:
- Kuseyri Hübschmann, Oya;
- Mohr, Alexander;
- Friedman, Jennifer;
- Manti, Filippo;
- Horvath, Gabriella;
- Cortès‐Saladelafont, Elisenda;
- Mercimek‐Andrews, Saadet;
- Yildiz, Yilmaz;
- Pons, Roser;
- Kulhánek, Jan;
- Oppebøen, Mari;
- Koht, Jeanette Aimee;
- Podzamczer‐Valls, Inés;
- Domingo‐Jimenez, Rosario;
- Ibáñez, Salvador;
- Alcoverro‐Fortuny, Oscar;
- Gómez‐Alemany, Teresa;
- Castro, Pedro;
- Alfonsi, Chiara;
- Zafeiriou, Dimitrios I.
Publication type:
Article
Creatine transport and pathological changes in creatine transporter deficient mice.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 939, doi. 10.1002/jimd.12358
By:
- Wawro, Adam M.;
- Gajera, Chandresh R.;
- Baker, Steven A.;
- Nirschl, Jeffrey J.;
- Vogel, Hannes;
- Montine, Thomas J.
Publication type:
Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 972, doi. 10.1002/jimd.12341
By:
- Vogt, Guido;
- El Choubassi, Naji;
- Herczegfalvi, Ágnes;
- Kölbel, Heike;
- Lekaj, Anja;
- Schara, Ulrike;
- Holtgrewe, Manuel;
- Krause, Sabine;
- Horvath, Rita;
- Schuelke, Markus;
- Hübner, Christoph;
- Mundlos, Stefan;
- Roos, Andreas;
- Lochmüller, Hanns;
- Karcagi, Veronika;
- Kornak, Uwe;
- Fischer‐Zirnsak, Björn
Publication type:
Article