Works matching IS 21928312 AND DT 2022 AND VI 63 AND IP 5

Results: 16

Autoantibodies in Wilson disease: Impact on clinical course.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 508, doi. 10.1002/jmd2.12317

By:

Antczak‐Kowalska, Magdalena;
Członkowska, Anna;
Eyileten, Ceren;
Palejko, Anna;
Cudna, Agnieszka;
Wolska, Marta;
Piechal, Agnieszka;
Litwin, Tomasz

Publication type:

Article

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report.

Published in:

2022

By:

Selvanathan, Arthavan;
Demetriou, Kalliope;
Lynch, Matthew;
Lipke, Michelle;
Bursle, Carolyn;
Elliott, Aoife;
Inwood, Anita;
Foyn, Leanne;
McWhinney, Brett;
Coman, David;
McGill, Jim

Publication type:

Case Study

Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 494, doi. 10.1002/jmd2.12316

By:

Valverde, Kathleen D.;
McCormick, Elizabeth M.;
Falk, Marni J.

Publication type:

Article

Clinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 484, doi. 10.1002/jmd2.12315

By:

Kalkan Uçar, Sema;
Yazıcı, Havva;
Canda, Ebru;
Er, Esra;
Bulut, Fatma Derya;
Eraslan, Cenk;
Onay, Hüseyin;
Bax, Bridget Elizabeth;
Çoker, Mahmut

Publication type:

Article

Bone disease in early detected Gaucher Type I disease: A case report.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 414, doi. 10.1002/jmd2.12314

By:

Gragnaniello, Vincenza;
Burlina, Alessandro P.;
Manara, Renzo;
Cazzorla, Chiara;
Rubert, Laura;
Gueraldi, Daniela;
Toniolli, Ermanno;
Quaia, Emilio;
Burlina, Alberto B.

Publication type:

Article

Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 475, doi. 10.1002/jmd2.12313

By:

Uribe‐Ardila, Alfredo;
Ramirez‐Borda, Johana;
Ayala, Adis

Publication type:

Article

Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 468, doi. 10.1002/jmd2.12312

By:

Sirrs, Sandra;
Fabbro, Elisa;
Sechi, Annalisa

Publication type:

Article

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.

Published in:

2022

By:

Champagne, Marjolaine;
Horvath, Gabriella A.;
Perreault, Sébastien;
Gauthier, Julie;
Hyland, Keith;
Soucy, Jean‐François;
Mitchell, Grant A.

Publication type:

Case Study

Glycogen storage disease type 1a in the Ohio Amish.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 453, doi. 10.1002/jmd2.12310

By:

Scott, Ethan M.;
Wenger, Olivia K.;
Robinson, Elizabeth;
Colling, Kristina;
Brown, Miraides F.;
Hershberger, Jennifer;
Radhakrishnan, Kadakkal

Publication type:

Article

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.

Published in:

2022

By:

Stolwijk, Nina N.;
Langeveld, Mirjam;
Jacobs, Bart A. W.;
Vogt, Liffert;
Haverkamp, Jorien A.;
Ferdinandusse, Sacha;
Hollak, Carla E. M.

Publication type:

Case Study

Glutamine energy substrate anaplerosis increases bone density in the Pah<sup>enu2</sup> classical PKU mouse in the absence of phenylalanine restriction.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 446, doi. 10.1002/jmd2.12308

By:

Dobrowolski, Steven F.;
Phua, Yu Leng;
Tourkova, Irina L.;
Sudano, Cayla;
Vockley, Jerry;
Larrouture, Quitterie C.;
Blair, Harry C.

Publication type:

Article

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 434, doi. 10.1002/jmd2.12307

By:

Sinha, Priya;
Gabor, Rachel;
Haupt‐Harrington, Rachael;
Deering, Leila;
Steiner, Robert D.

Publication type:

Article

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 462, doi. 10.1002/jmd2.12311

By:

Nikpour, Mahnaz;
Noborn, Fredrik;
Nilsson, Jonas;
Van Damme, Tim;
Kaye, Olivier;
Syx, Delfien;
Malfait, Fransiska;
Larson, Göran

Publication type:

Article

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 391, doi. 10.1002/jmd2.12303

By:

Andzelm, Milena M.;
Balasubramaniam, Shanti;
Yang, Edward;
Compton, Alison G.;
Millington, Kate;
Zhu, Jia;
Anselm, Irina;
Rodan, Lance H.;
Thorburn, David R.;
Christodoulou, John;
Srivastava, Siddharth

Publication type:

Article

A cross‐sectional natural history study of aspartylglucosaminuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 425, doi. 10.1002/jmd2.12294

By:

Goodspeed, Kimberly;
Horton, Daniel;
Lowden, Andrea;
Sguigna, Peter V.;
Booth, Timothy;
Wang, Zhiyue J.;
Edgar, Veronica Bordes

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 389, doi. 10.1002/jmd2.12230
Publication type:: Article