Works matching IS 21928312 AND DT 2025 AND VI 66 AND IP 1

Results: 15

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12470

By:

Dilanthi, Hewa Warawitage;
Jayasena, Kandana Liyanage Subhashinie;
Dhammika, Nambage Dona Priyani;
Indika, Neluwa Liyanage Ruwan;
De Silva, Matara Mahavidanage Nishani;
Kankananarachchi, Imalke;
Punchihewa, Pushpa Malkanthi Gardiye;
Irugalbandara, Dharma;
Schroeder, Sabine;
Karunaratne, Kosala;
Jasinge, Eresha

Publication type:

Article

A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12468

By:

Jarrah, Omar;
Nouri, Mahmood;
Al Shamsi, Aisha

Publication type:

Article

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.

Published in:

2025

By:

Taj, Raeda;
Ng, Kim;
Cuddapah, Sanmati R.;
Rand, Elizabeth B.;
Bleicher, Melissa;
Amaral, Sandra;
Hoteit, Maarouf A.;
Reddy, Rajendar K.;
Feyssa, Eyob;
Furth, Emma E.;
Olthoff, Kim M.;
Abu‐Gazala, Samir;
Levine, Matthew H.;
Vyas, Frederick;
Abt, Peter L.

Publication type:

Case Study

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Published in:

2025

By:

Leslie, Alison C.;
Jarnes, Jeanine;
Ahmed, Alia;
Shrestha, Sofia;
Wang, Jeffrey;
Whitley, Chester B.;
Pillai, Nishitha R.

Publication type:

Case Study

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12459

By:

Cassini, Thomas;
Silverstein, Sarah;
Behan, Molly;
Tifft, Cynthia J.;
Malicdan, May Christine;
Adams, David R.;
Ahn, Sun‐Young;
Regier, Debra S.

Publication type:

Article

Liver transplantation in glycogen storage disease type III: A case‐series.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12463

By:

Gay, Simon;
Bigot, Adrien;
d'Alteroche, Louis;
Dujardin, Fanny;
Fromont‐Hankard, Gaëlle;
Tressel, Nathalie;
Salame, Ephrem;
Maillot, François

Publication type:

Article

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12462

By:

Agnoletto, Lucas;
Vandeleur, Moya;
White, Mary;
Adams, Anne‐Marie;
Halligan, Rebecca;
Peters, Heidi

Publication type:

Article

D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12461

By:

Amer, Aya;
Murrell, Kathryn;
Edmonds, Liza;
Bernhardt, Isaac;
Akroyd, Rhonda;
Ryder, Bryony;
Wilson, Callum;
Glamuzina, Emma

Publication type:

Article

Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12460

By:

Tu, Shao Ching;
Khan, Marium;
Wolfe, Katie;
Kulkarni, Sakil S.;
Toolan, Elizabeth;
Grange, Dorothy K.

Publication type:

Article

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12465

By:

Dolgin, Vadim;
Chabosseau, Pauline;
Bistritzer, Jacob;
Noyman, Iris;
Staretz‐Chacham, Orna;
Wormser, Ohad;
Hadar, Noam;
Eskin‐Schwartz, Marina;
Kanengisser‐Pines, Bibi;
Narkis, Ginat;
Abramsky, Ramy;
Shany, Eilon;
Rutter, Guy A.;
Marks, Kyla;
Birk, Ohad S.

Publication type:

Article

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12458

By:

Avila, Christine Mae S.;
Abacan, Mary Ann R.

Publication type:

Article

Does p‐lactate increase in patients with GSD1 after ingesting a meal with common‐size sources of fructose and galactose? Observations from a prospective, non‐blinded, crossover pilot study.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12457

By:

Caroee, Camilla Diana B.;
Lund, Allan M.

Publication type:

Article

Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12455

By:

Hieltjes, I. J.;
van der Lee, J. H.;
Groenendijk, M. C.;
van Haaften, G.;
van Hasselt, P. M.;
Lunsing, R. J.;
van Prooijen, G. J. J.;
de Ruiter, E. M.;
van Spronsen, F. J.;
Verhoeven‐Duif, N. M.;
de Vreugd, A.;
Wagenmakers, M.;
Zweers, H.;
Dekker, H.;
Waterham, H. R.;
van Karnebeek, C. D.;
Wanders, R. J. A.;
Wevers, R. A.

Publication type:

Article

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12454

By:

Mohamed, Ahmed Sarar;
AlAnzi, Talal;
Alhashem, Amal;
Alrukban, Hadeel;
Al Harbi, Fahad;
Mohamed, Sarar

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12428
Publication type:: Article