Works matching IS 01418955 AND DT 2021 AND VI 44

Results: 142

Abstracts.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, p. 1, doi. 10.1002/jimd.12458
Publication type:: Article

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1419, doi. 10.1002/jimd.12440

By:

Ranea‐Robles, Pablo;
Chen, Hongjie;
Stauffer, Brandon;
Yu, Chunli;
Bhattacharya, Dipankar;
Friedman, Scott L.;
Puchowicz, Michelle;
Houten, Sander M.

Publication type:

Article

Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1505, doi. 10.1002/jimd.12439

By:

Padmanabha, Hansashree;
Shekhar, Ravi;
Mahale, Rohan;
Annam, Harikrishna;
Bhat, Maya;
Sangeeth, Thuppanattumadam A.;
Christopher, Rita;
Arunachal, Gautham;
Mailankody, Pooja;
Mathuranath, Pavagada S.

Publication type:

Article

Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1409, doi. 10.1002/jimd.12438

By:

Pizzamiglio, Chiara;
Mahroo, Omar A.;
Khan, Kamron N.;
Patasin, Maria;
Quinlivan, Rosaline

Publication type:

Article

Long‐term functional correction of cystathionine β‐synthase deficiency in mice by adeno‐associated viral gene therapy.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1382, doi. 10.1002/jimd.12437

By:

Lee, Hyung‐Ok;
Salami, Christiana O.;
Sondhi, Dolan;
Kaminsky, Stephen M.;
Crystal, Ronald G.;
Kruger, Warren D.

Publication type:

Article

Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1343, doi. 10.1002/jimd.12436

By:

Boy, Nikolas;
Mohr, Alexander;
Garbade, Sven F.;
Freisinger, Peter;
Heringer‐Seifert, Jana;
Seitz, Angelika;
Kölker, Stefan;
Harting, Inga

Publication type:

Article

Differential outcomes for frontal versus posterior demyelination in childhood cerebral adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1434, doi. 10.1002/jimd.12435

By:

Gupta, Ashish O.;
Nascene, David R.;
Shanley, Ryan;
Kenney‐Jung, Daniel L.;
Eisengart, Julie B.;
Lund, Troy C.;
Orchard, Paul J.;
Pierpont, Elizabeth I.

Publication type:

Article

Congenital disorders of glycosylation with defective fucosylation.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426

By:

Hüllen, Andreas;
Falkenstein, Kristina;
Weigel, Corina;
Huidekoper, Hidde;
Naumann‐Bartsch, Nora;
Spenger, Johannes;
Feichtinger, René G.;
Schaefers, Jacqueline;
Frenz, Stephanie;
Kotlarz, Daniel;
Momen, Tooba;
Khoshnevisan, Razieh;
Riedhammer, Korbinian M.;
Santer, René;
Herget, Theresia;
Rennings, Alexander;
Lefeber, Dirk J.;
Mayr, Johannes A.;
Thiel, Christian;
Wortmann, Saskia B.

Publication type:

Article

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1289, doi. 10.1002/jimd.12431

By:

Kingma, Sandra D. K.;
Jonckheere, An I.

Publication type:

Article

Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson's disease.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1481, doi. 10.1002/jimd.12430

By:

Jacquelet, Elodie;
Poujois, Aurelia;
Pheulpin, Marie‐Christine;
Demain, Adèle;
Tinant, Nadège;
Gastellier, Nathalie;
Woimant, France

Publication type:

Article

A diagnostic confidence scheme for CLN3 disease.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1453, doi. 10.1002/jimd.12429

By:

Masten, Margaux C.;
Corre, Camille;
Paciorkowski, Alex R.;
Vierhile, Amy;
Adams, Heather R.;
Vermilion, Jennifer;
Zimmerman, Grace A.;
Augustine, Erika F.;
Mink, Jonathan W.

Publication type:

Article

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428

By:

Mengel, Eugen;
Patterson, Marc C.;
Da Riol, Rosalia M.;
Del Toro, Mireia;
Deodato, Federica;
Gautschi, Matthias;
Grunewald, Stephanie;
Grønborg, Sabine;
Harmatz, Paul;
Héron, Bénédicte;
Maier, Esther M.;
Roubertie, Agathe;
Santra, Saikat;
Tylki‐Szymanska, Anna;
Day, Simon;
Andreasen, Anne Katrine;
Geist, Marie Aavang;
Havnsøe Torp Petersen, Nikolaj;
Ingemann, Linda;
Hansen, Thomas

Publication type:

Article

Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1393, doi. 10.1002/jimd.12434

By:

Reda, Ahmed;
Veys, Koenraad;
Kadam, Prashant;
Taranta, Anna;
Rega, Laura Rita;
Goffredo, Bianca M.;
Camps, Chelsea;
Besouw, Martine;
Cyr, Daniel;
Albersen, Maarten;
Spiessens, Carl;
de Wever, Liesbeth;
Hamer, Robert;
Janssen, Mirian C.H.;
D'Hauwers, Kathleen;
Wetzels, Alex;
Monnens, Leo;
van den Heuvel, Lambertus;
Goossens, Ellen;
Levtchenko, Elena

Publication type:

Article

Corrigendum.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1507, doi. 10.1002/jimd.12420
Publication type:: Article

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1330, doi. 10.1002/jimd.12419

By:

Schumann, Anke;
Belche, Véronique;
Schaller, Kristin;
Grünert, Sarah C.;
Kaech, Andres;
Baumgartner, Matthias R.;
Kölker, Stefan;
Hannibal, Luciana;
Spiekerkoetter, Ute

Publication type:

Article

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1503, doi. 10.1002/jimd.12417

By:

Kumps, Camille;
Stanovici, Julien;
Chaibi, Emmelie;
Campos‐Xavier, Belinda;
Pavlidou, Despina Christina;
Tran, Christel

Publication type:

Article

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416

By:

Keller, Mareike;
Brennenstuhl, Heiko;
Kuseyri Hübschmann, Oya;
Manti, Filippo;
Julia Palacios, Natalia Alexandra;
Friedman, Jennifer;
Yıldız, Yılmaz;
Koht, Jeanette Aimee;
Wong, Suet‐Na;
Zafeiriou, Dimitrios I.;
López‐Laso, Eduardo;
Pons, Roser;
Kulhánek, Jan;
Jeltsch, Kathrin;
Serrano‐Lomelin, Jesus;
Garbade, Sven F.;
Opladen, Thomas;
Goez, Helly;
Burlina, Alberto;
Cortès‐Saladelafont, Elisenda

Publication type:

Article

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1311, doi. 10.1002/jimd.12415

By:

Kido, Jun;
Matsumoto, Shirou;
Häberle, Johannes;
Inomata, Yukihiro;
Kasahara, Mureo;
Sakamoto, Seisuke;
Horikawa, Reiko;
Tanemura, Akihiro;
Okajima, Hideaki;
Suzuki, Tatsuya;
Nakamura, Kimitoshi

Publication type:

Article

Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1353, doi. 10.1002/jimd.12413

By:

Aitkenhead, Lynne;
Krishna, Gauri;
Ellerton, Charlotte;
Moinuddin, Md;
Matcham, Jessica;
Shiel, Lisha;
Hossain, Shasoty;
Kiffin, Marianne;
Foley, Jennifer;
Skeath, Rachel;
Cleary, Maureen;
Lachmann, Robin;
Murphy, Elaine

Publication type:

Article

3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1323, doi. 10.1002/jimd.12410

By:

Meyer, Melanie;
Hollenbeck, Jana C.;
Reunert, Janine;
Seelhöfer, Anja;
Rust, Stephan;
Fobker, Manfred;
Biskup, Saskia;
Och, Ulrike;
Linden, Mechthild;
Sass, Jörn Oliver;
Marquardt, Thorsten

Publication type:

Article

Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1369, doi. 10.1002/jimd.12392

By:

Kaiser, Robert A.;
Weber, Nicholas D.;
Trigueros‐Motos, Laia;
Allen, Kari L.;
Martinez, Michael;
Cao, William;
VanLith, Caitlin J.;
Hillin, Lori G.;
Douar, Anne;
González‐Aseguinolaza, Gloria;
Aldabe, Rafael;
Lillegard, Joseph B.

Publication type:

Article

High dose genistein in Sanfilippo syndrome: A randomised controlled trial.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1248, doi. 10.1002/jimd.12407

By:

Ghosh, Arunabha;
Rust, Stewart;
Langford‐Smith, Kia;
Weisberg, Daniel;
Canal, Maria;
Breen, Catherine;
Hepburn, Michelle;
Tylee, Karen;
Vaz, Frédéric M.;
Vail, Andy;
Wijburg, Frits;
O'Leary, Claire;
Parker, Helen;
Wraith, J. Ed;
Bigger, Brian W.;
Jones, Simon A.

Publication type:

Article

A new D‐galactose treatment monitoring index for PGM1‐CDG.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1263, doi. 10.1002/jimd.12406

By:

Perales‐Clemente, Ester;
Liedtke, Kristen;
Studinski, April;
Radenkovic, Silvia;
Gavrilov, Dimitar;
Oglesbee, Devin;
Matern, Dietrich;
Rinaldo, Piero;
Tortorelli, Silvia;
Morava, Eva;
Raymond, Kimiyo

Publication type:

Article

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1235, doi. 10.1002/jimd.12404

By:

Gobin‐Limballe, Stephanie;
Ottolenghi, Chris;
Reyal, Fabien;
Arnoux, Jean‐Baptiste;
Magen, Maryse;
Simon, Marie;
Brassier, Anaïs;
Jabot‐Hanin, Fabienne;
Lonlay, Pascale De;
Pontoizeau, Clement;
Guirat, Manel;
Rio, Marlene;
Gesny, Roselyne;
Gigarel, Nadine;
Royer, Ghislaine;
Steffann, Julie;
Munnich, Arnold;
Bonnefont, Jean‐Paul

Publication type:

Article

Regulatory news: Nulibry (fosdenopterin) approved to reduce the risk of mortality in patients with molybdenum cofactor deficiency type A: FDA approval summary.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1085, doi. 10.1002/jimd.12421

By:

Farrell, Sheila;
Karp, Jacqueline;
Hager, Rebecca;
Wang, Yan;
Adeniyi, Oluseyi;
Wang, Jie;
Li, Liang;
Ma, Lian;
Peretz, Jackye;
Summan, Mukesh;
Kong, Nicolas;
White, Michael;
Pacanowski, Michael;
Price, Dionne;
Filie, Jane;
Donohue, Kathleen;
Joffe, Hylton

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1, doi. 10.1002/jimd.12261
Publication type:: Article

Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1099, doi. 10.1002/jimd.12418

By:

Chevalier, Kevin;
Benyounes, Nadia;
Obadia, Michaël Alexandre;
Van Der Vynckt, Clélie;
Morvan, Erwan;
Tibi, Thierry;
Poujois, Aurélia

Publication type:

Article

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1272, doi. 10.1002/jimd.12412

By:

Brennenstuhl, Heiko;
Nashawi, Mohammed;
Schröter, Julian;
Baronio, Federico;
Beedgen, Lars;
Gleich, Florian;
Jeltsch, Kathrin;
von Landenberg, Christina;
Martini, Silvia;
Simon, Anna;
Thiel, Christian;
Tsiakas, Konstantinos;
Opladen, Thomas;
Kölker, Stefan;
Hoffmann, Georg F.;
Haas, Dorothea

Publication type:

Article

In vitro functional analysis of four variants of human asparagine synthetase.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1226, doi. 10.1002/jimd.12408

By:

Matsumoto, Hideki;
Kawashima, Nana;
Yamamoto, Takahiro;
Nakama, Mina;
Otsuka, Hiroki;
Ago, Yasuhiko;
Sasai, Hideo;
Kubota, Kazuo;
Ozeki, Michio;
Kawamoto, Norio;
Esaka, Yukihiro;
Ohnishi, Hidenori

Publication type:

Article

Mucopolysaccharidoses type I gene therapy.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1088, doi. 10.1002/jimd.12414

By:

Hurt, Sarah C.;
Dickson, Patricia I.;
Curiel, David T.

Publication type:

Article

Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1199, doi. 10.1002/jimd.12403

By:

Toquet, Ségolène;
Spodenkiewicz, Marta;
Douillard, Claire;
Maillot, François;
Arnoux, Jean‐Baptiste;
Damaj, Lena;
Odent, Sylvie;
Moreau, Caroline;
Redonnet‐Vernhet, Isabelle;
Mesli, Samir;
Servais, Aude;
Noel, Esther;
Charriere, Sybill;
Rigalleau, Vincent;
Lavigne, Christian;
Kaphan, Elsa;
Roubertie, Agathe;
Besson, Gérard;
Bigot, Adrien;
Servettaz, Amélie

Publication type:

Article

Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1215, doi. 10.1002/jimd.12394

By:

Fogh, Sarah;
Dipace, Graziana;
Bie, Anne;
Veiga‐da‐Cunha, Maria;
Hansen, Jakob;
Kjeldsen, Margrethe;
Mosegaard, Signe;
Ribes, Antonia;
Gregersen, Niels;
Aagaard, Lars;
Van Schaftingen, Emile;
Olsen, Rikke K. J.

Publication type:

Article

Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1151, doi. 10.1002/jimd.12388

By:

Fumagalli, Francesca;
Zambon, Alberto A.;
Rancoita, Paola M. V.;
Baldoli, Cristina;
Canale, Sabrina;
Spiga, Ivana;
Medaglini, Stefania;
Penati, Rachele;
Facchini, Marcella;
Ciotti, Francesca;
Sarzana, Marina;
Lorioli, Laura;
Cesani, Martina;
Natali Sora, Maria Grazia;
Del Carro, Ubaldo;
Cugnata, Federica;
Antonioli, Gigliola;
Recupero, Salvatore;
Calbi, Valeria;
Di Serio, Clelia

Publication type:

Article

No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1186, doi. 10.1002/jimd.12393

By:

Løkken, Nicoline;
Khawajazada, Tahmina;
Storgaard, Jesper Helbo;
Raaschou‐Pedersen, Daniel;
Christensen, Maja Elling;
Hornsyld, Tessa Munkeboe;
Krag, Thomas;
Ørngreen, Mette C.;
Vissing, John

Publication type:

Article

Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1<sup>tm1Kds</sup> mice and X‐linked adrenoleukodystrophy patients.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1174, doi. 10.1002/jimd.12389

By:

Kettwig, Matthias;
Klemp, Henry;
Nessler, Stefan;
Streit, Frank;
Krätzner, Ralph;
Rosewich, Hendrik;
Gärtner, Jutta

Publication type:

Article

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386

By:

Rossi, Alessandro;
Hoogeveen, Irene J.;
Lubout, Charlotte M. A.;
de Boer, Foekje;
Fokkert‐Wilts, Marieke J.;
Rodenburg, Iris L.;
van Dam, Esther;
Grünert, Sarah C.;
Martinelli, Diego;
Scarpa, Maurizio;
Dekker, Hanka;
te Boekhorst, Sebastiaan T.;
van Spronsen, Francjan J.;
Derks, Terry G. J.

Publication type:

Article

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1113, doi. 10.1002/jimd.12385

By:

Steinbusch, Laura K.M.;
Wang, Ping;
Waterval, Huub W.A.H.;
Stassen, Fons A.P.M.;
Coene, Karlien L.M.;
Engelke, Udo F.H.;
Habets, Daphna D.J.;
Bierau, Jörgen;
Körver‐Keularts, Irene M.L.W.

Publication type:

Article

A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1136, doi. 10.1002/jimd.12383

By:

Peeks, Fabian;
Hoogeveen, Irene J.;
Feldbrugge, R. Lude;
Burghard, Rob;
de Boer, Foekje;
Fokkert‐Wilts, Marieke J.;
van der Klauw, Melanie M.;
Oosterveer, Maaike H.;
Derks, Terry G. J.

Publication type:

Article

Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1165, doi. 10.1002/jimd.12382

By:

Cohen, Yael;
Frydman, Dafna;
Rotem, Reut;
Kofman, Roei;
Zimran, Ari;
Revel‐Vilk, Shoshana;
Grisaru‐Granovsky, Sorina

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1, doi. 10.1002/jimd.12260
Publication type:: Article

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