Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 2

Results: 29

Glucose transporter type 1 deficiency syndrome and the ketogenic diet.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 216, doi. 10.1002/jimd.12175

By:

Schwantje, Marit;
Verhagen, Lilly M.;
Hasselt, Peter M.;
Fuchs, Sabine A.

Publication type:

Article

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 234, doi. 10.1002/jimd.12174

By:

Brassier, Anaïs;
Krug, Pauline;
Lacaille, Florence;
Pontoizeau, Clément;
Krid, Saoussen;
Sissaoui, Samira;
Servais, Aude;
Arnoux, Jean‐Baptiste;
Legendre, Christophe;
Charbit, Marina;
Scemla, Anne;
Francoz, Claire;
Benoist, Jean‐François;
Schiff, Manuel;
Mochel, Fanny;
Touati, Guy;
Broué, Pierre;
Cano, Aline;
Tardieu, Marine;
Querciagrossa, Stefania

Publication type:

Article

The first European guidelines on phenylketonuria: Usefulness and implications for BH<sub>4</sub> responsiveness testing.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 244, doi. 10.1002/jimd.12173

By:

Evers, Roeland A. F.;
Wegberg, Annemiek M. J.;
Anjema, Karen;
Lubout, Charlotte M. A.;
Dam, Esther;
Vliet, Danique;
Blau, Nenad;
Spronsen, Francjan J.

Publication type:

Article

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 259, doi. 10.1002/jimd.12172

By:

Hughes, Juliette H.;
Wilson, Peter J. M.;
Sutherland, Hazel;
Judd, Shirley;
Hughes, Andrew T.;
Milan, Anna M.;
Jarvis, Jonathan C.;
Bou‐Gharios, George;
Ranganath, Lakshminarayan R.;
Gallagher, James A.

Publication type:

Article

Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 375, doi. 10.1002/jimd.12188

By:

Mahajan, Neha;
Warren, Mikako;
Yano, Shoji

Publication type:

Article

Neutralising anti‐drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 334, doi. 10.1002/jimd.12176

By:

Stappers, Franciska;
Scharnetzki, David;
Schmitz, Boris;
Manikowski, Dominique;
Brand, Stefan‐Martin;
Grobe, Kay;
Lenders, Malte;
Brand, Eva

Publication type:

Article

Phenylketonuria, co‐morbidity, and ageing: A review.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 167, doi. 10.1002/jimd.12186

By:

Vardy, Emma R.L.C.;
MacDonald, Anita;
Ford, Suzanne;
Hofman, Denise L.

Publication type:

Article

Inborn errors of enzymes in glutamate metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 200, doi. 10.1002/jimd.12180

By:

Rumping, Lynne;
Vringer, Esmee;
Houwen, Roderick H. J.;
Hasselt, Peter M.;
Jans, Judith J. M.;
Verhoeven‐Duif, Nanda M.

Publication type:

Article

Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 279, doi. 10.1002/jimd.12178

By:

Peeks, Fabian;
Boonstra, Willemijn F.;
Baere, Lut;
Carøe, Camilla;
Casswall, Thomas;
Cohen, Damián;
Cowan, Katherine;
Ferrecchia, Iris;
Ferriani, Alberto;
Gimbert, Caroline;
Landgren, Marcus;
Maldonado, Nerea L.;
McMillan, Jason;
Nemeth, Antal;
Seidita, Niccolò;
Stachelhaus‐Theimer, Ute;
Weinstein, David A.;
Derks, Terry G. J.

Publication type:

Article

Bone mineral density is within normal range in most adult phenylketonuria patients.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 251, doi. 10.1002/jimd.12177

By:

Lubout, Charlotte M. A.;
Blanco, Francisco Arrieta;
Bartosiewicz, Katarzyna;
Feillet, François;
Gizewska, Maria;
Hollak, Carla;
Lee, Johanna H.;
Maillot, François;
Stepien, Karolina M.;
Wagenmakers, Margreet A. E. M.;
Welsink‐Karssies, Mendy M.;
Spronsen, Francjan J.;
Bosch, Annet M.

Publication type:

Article

Early neurodevelopmental characterization in children with cobalamin C/defect.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 367, doi. 10.1002/jimd.12171

By:

Ricci, Daniela;
Martinelli, Diego;
Ferrantini, Gloria;
Lucibello, Simona;
Gambardella, MLuigia;
Olivieri, Giorgia;
Chieffo, Daniela;
Battaglia, Domenica;
Diodato, Daria;
Iarossi, Giancarlo;
Donati, Alice M.;
Dionisi‐Vici, Carlo;
Battini, Roberta;
Mercuri, Eugenio M.

Publication type:

Article

Jan Kraus PhD., Professor of Pediatrics at the University of Colorado Anschutz Medical Campus, Aurora, CO, USA (b London, UK, June 5, 1942; q 1965 Faculty of Science Prague, d July 4, 2019, CO, USA).

Published in:

2020

By:

Fowler, Brian;
Kožich, Viktor

Publication type:

Obituary

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan).

Published in:

2020

By:

Fukao, Toshiyuki;
Yamaguchi, Seiji;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Orii, Tadao;
Wanders, Ronald J. A.

Publication type:

Obituary

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 326, doi. 10.1002/jimd.12167

By:

Nowak, Albina;
Huynh‐Do, Uyen;
Krayenbuehl, Pierre‐Alexandre;
Beuschlein, Felix;
Schiffmann, Raphael;
Barbey, Frédéric

Publication type:

Article

Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 309, doi. 10.1002/jimd.12166

By:

Patel, Nina;
Mills, Philippa;
Davison, James;
Cleary, Maureen;
Gissen, Paul;
Banushi, Blerida;
Doykov, Ivan;
Dorman, Megan;
Mills, Kevin;
Heywood, Wendy E.

Publication type:

Article

View from inside: Tália's story.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 161, doi. 10.1002/jimd.12165

By:

Bacarese‐Hamilton, Shanalle;
Bacarese‐Hamilton, Andrew

Publication type:

Article

Central nervous system complications in adult cystinosis patients.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 348, doi. 10.1002/jimd.12164

By:

Servais, Aude;
Saitovitch, Ana;
Hummel, Aurélie;
Boisgontier, Jennifer;
Scemla, Anne;
Sberro‐Soussan, Rebecca;
Snanoudj, Renaud;
Lemaitre, Hervé;
Legendre, Christophe;
Pontoizeau, Clément;
Antignac, Corinne;
Anglicheau, Dany;
Funalot, Benoît;
Boddaert, Nathalie

Publication type:

Article

Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 179, doi. 10.1002/jimd.12163

By:

Moat, Stuart J.;
Schulenburg‐Brand, Danja;
Lemonde, Hugh;
Bonham, James R.;
Weykamp, Cas W.;
Mei, Joanne V.;
Shortland, Graham S.;
Carling, Rachel S.

Publication type:

Article

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 223, doi. 10.1002/jimd.12162

By:

Makhamreh, Mona M.;
Cottingham, Naiga;
Ferreira, Carlos R.;
Berger, Seth;
Al‐Kouatly, Huda B.

Publication type:

Article

Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 357, doi. 10.1002/jimd.12161

By:

Vicogne, Dorothée;
Houdou, Marine;
Garat, Anne;
Climer, Leslie;
Lupashin, Vladimir;
Morelle, Willy;
Foulquier, François

Publication type:

Article

Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 269, doi. 10.1002/jimd.12160

By:

Dahlberg, Kathryn R.;
Ferrecchia, Iris A.;
Dambska‐Williams, Monika;
Resler, Traci E.;
Ross, Katalin M.;
Butler, Gail L.;
Kuo, Chia‐Ling;
Ryan, Patrick T.;
Weinstein, David A.

Publication type:

Article

Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 318, doi. 10.1002/jimd.12159

By:

Harjunen, Elina Leena;
Laine, Minna;
Tikkanen, Ritva;
Helenius, Päivi

Publication type:

Article

Increased risk of sudden death in untreated primary carnitine deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 290, doi. 10.1002/jimd.12158

By:

Rasmussen, Jan;
Dunø, Morten;
Lund, Allan M.;
Steuerwald, Ulrike;
Hansen, Steen‐Holger;
Joensen, Høgni D.;
Køber, Lars;
Nielsen, Olav W.

Publication type:

Article

Corrigendum.

Published in:: Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 381, doi. 10.1002/jimd.12157
Publication type:: Article

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156

By:

Mingirulli, Nadja;
Pyle, Angela;
Hathazi, Denisa;
Alston, Charlotte L.;
Kohlschmidt, Nicolai;
O'Grady, Gina;
Waddell, Leigh;
Evesson, Frances;
Cooper, Sandra B. T.;
Turner, Christian;
Duff, Jennifer;
Topf, Ana;
Yubero, Delia;
Jou, Cristina;
Nascimento, Andrés;
Ortez, Carlos;
García‐Cazorla, Angels;
Gross, Claudia;
O'Callaghan, Maria;
Santra, Saikat

Publication type:

Article

Concerning "Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies" by Marcé‐Grau et al.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 159, doi. 10.1002/jimd.12154

By:

Sechi, GianPietro

Publication type:

Article

Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 189, doi. 10.1002/jimd.12151

By:

Evers, Roeland A. F.;
Vliet, Danique;
Spronsen, Francjan J.

Publication type:

Article

Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 157, doi. 10.1002/jimd.12148

By:

Sremba, Leighann;
McCandless, Shawn;
Baker, Peter

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 1, doi. 10.1002/jimd.12114
Publication type:: Article