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

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

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

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

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

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

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

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

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1, doi. 10.1002/jimd.12259
Publication type:: Article