Works matching IS 21928312 AND DT 2025 AND VI 66 AND IP 4

Results: 12

Human D‐Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70039

By:

Sloth, T. B.;
Ørngreen, M. C.;
Ek, J.;
Bache, I.;
Wibrand, F.;
Lund, A. M.

Publication type:

Article

A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70037

By:

Rasmussen, Shauna A.;
Seemiller, Madelyn M.;
Smith, Ingrid;
Wilson, Madeleine;
Daenzer, Jennifer M. I.;
Wiggins, Keenan;
Fridovich‐Keil, Judith L.

Publication type:

Article

Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70036

By:

Meldau, Surita;
McCormick, Elizabeth M.;
George‐Sankoh, Ibrahim;
Riordan, Gillian T.;
Khan, Kashief;
MacMullen, Laura E.;
Dawlat, Shrinav;
Blackhurst, Dee;
Falk, Marni J.;
Elson, Joanna L.

Publication type:

Article

Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70035

By:

Penicaud, Romain;
Ferron, Jean‐Baptiste;
Valette, Xavier;
Bauduin, Pierrick;
Faisant, Maxime;
Schiff, Manuel;
Nguyen, Alexandre;
Fontaine, Fanny;
Allouche, Stéphane

Publication type:

Article

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70034

By:

Cade, W. Todd;
Bohnert, Kathryn L.;
Peterson, Linda R.;
Fuentes, Lisa de las;
Poehlein, Emily;
Green, Cynthia L.;
Pacak, Christina A.;
Byrne, Barry J.;
Reeds, Dominic N.;
Bashir, Adil;
Feingold, Brian;
Taylor, Carolyn

Publication type:

Article

A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70031

By:

Rehsi, Preeya;
Siddiqui, Ata;
Singh, Rahul;
Ihezue, Obioma;
Halligan, Rebecca

Publication type:

Article

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70030

By:

Puente‐Ruiz, Nuria;
Palaniappan, Saru;
Woodall, Alison;
Cooper, Robert;
Terry, Allyson;
Oldham, Andrew;
Rousseau, Abigail;
Campbell, Christopher;
Vasudevan, Pradeep;
Stepien, Karolina M.

Publication type:

Article

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70029

By:

Sabir, Marya S.;
Pollard, Laura;
Wolfe, Lynne;
Adams, David R.;
Ciccone, Carla;
Leoyklang, Petcharat;
Platt, Frances M.;
Huizing, Marjan;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

HMG‐CoA Synthase‐2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70028

By:

Vaseenon, Hathaipat;
Tim‐Aroon, Thipwimol;
Saengow, Vitchayaporn Emarach;
Sangcakul, Areeporn;
Wongkittichote, Parith;
Khongkraparn, Arthaporn;
Wattanasirichaigoon, Duangrurdee

Publication type:

Article

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70027

By:

Terrell, A.;
Sapp, K.;
Graham, B.;
McPheron, M.;
Wetherill, L.

Publication type:

Article

Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.70025

By:

Laufs, V.;
Hasenburg, A.;
Busch, M. A.;
Lang, F.;
Macchiella, D.;
Mildenberger, E.;
Seidmann, L.;
Hennermann, J. B.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 4, p. 1, doi. 10.1002/jmd2.12431
Publication type:: Article