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

Results: 29

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
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
Corrigendum.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 381, doi. 10.1002/jimd.12157
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
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
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
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
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
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
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 "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
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
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
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
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
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
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
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
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 1, doi. 10.1002/jimd.12114
Publication type:
Article