Works matching IS 21928312 AND DT 2025 AND VI 66 AND IP 3

Results: 16

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Published in:

2025

By:

Hamdeh, Mo'ath Abu;
Jaber, Lema;
Abdullah, Jamal;
Manhal, Anas;
Qouqas, Mahmoud M.;
Aldwaik, Mohammed;
Rmeilah, Sarah Abu;
Sultan, Mutaz;
Shweiki, Shaher;
Damseh, Nadirah

Publication type:

Case Study

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70023

By:

Selvanathan, A.;
Nazir, S.;
van Wyk, K.;
Simpson, E.;
Holmes, V.;
Hutton, R.;
White, F.;
Schwahn, B. C.

Publication type:

Article

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70022

By:

Pereira, D.;
Loftus, E.;
Thompson, C. E.;
Boyle, F.;
McNulty, J.;
Boruah, R.;
Crushell, E.;
Howard, C.;
Hughes, J.;
Monavari, A. A.;
Treacy, E. P.;
Beegan, A.;
Jordan, N.;
Rogers, Y.;
Collins, A.;
Brady, J. J.;
Elsammak, M.;
Mayne, P. D.;
Knerr, I.

Publication type:

Article

Mental and Physical Health in Wilson Disease Patients With SARS‐CoV‐2 Infection and Relevance of Long‐COVID.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70021

By:

Mohr, Isabelle;
Brand, Maximilian;
Weber, Christophe;
Langel, Andrea;
Langel, Jessica;
Michl, Patrick;
Leidner, Viola Yuriko;
Olkus, Alexander;
Köhrer, Sebastian;
Merle, Uta

Publication type:

Article

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70020

By:

Wongkittichote, Parith;
Jonatzke, Kira E.;
Hyde, Benjamin T.;
Peterson, Lance W.;
He, Mai;
McKinstry, Robert C.;
Antonellis, Anthony;
Shinawi, Marwan

Publication type:

Article

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Published in:

2025

By:

Lee, Angela;
Weisenberg, Judith;
Toolan, Elizabeth;
Shinawi, Marwan

Publication type:

Case Study

Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3‐Hydroxyacyl‐coA Dehydrogenase Deficiency.

Published in:

2025

By:

Alonso‐Diaz, Clara;
Escuder‐Vieco, Diana;
Quijada‐Fraile, Pilar;
Barrio‐Carreras, Delia;
Pérez‐Mohand, Patricia;
Martín‐Hernández, Elena;
Pallas‐Alonso, Carmen Rosa;
García‐Lara, Nadia Raquel

Publication type:

Case Study

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Published in:

2025

By:

Marchante Pita, Rita;
Amaral, Raquel;
Vilarinho, Laura;
Diogo, Luísa;
Gonçalves, Isabel;
Nobre, Susana

Publication type:

Case Study

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null.

Published in:

2025

By:

Simpson, Kara;
MacLeod, Erin L.;
Clayton, Julia;
Yazigi, Nada A.;
Rubio‐Gozalbo, M. Estela;
Fridovich‐Keil, Judith L.;
Berry, Gerard T.;
Ah Mew, Nicholas

Publication type:

Case Study

Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70015

By:

Naik, Hetanshi;
Wheeden, Kristen;
Colwell, Hilary H.;
Mathias, Susan D.;
Norregaard, Chelsea;
Chin, Melanie;
Savage, William;
Balwani, Manisha

Publication type:

Article

Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report.

Published in:

2025

By:

Saito, Tomoki;
Soma, Kento;
Kashisaka, Mai;
Iketani, Kiiko;
Matsumoto, Masaaki;
Ueda, Takuya;
Nishiyama, Masahiro;
Maruyama, Azusa;
Nakai, Ryosuke;
Sakihama, Hiroshi;
Kurosawa, Hiroshi;
Morisada, Naoya;
Kobayashi, Hironori;
Ozaki, Kayo

Publication type:

Case Study

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70013

By:

Aelvoet, Y.;
Verloo, P.;
Vanlander, A.;
Vande Velde, S.;
Van Biervliet, S.;
De Bruyne, P.;
Hoste, L.;
Dheedene, A.;
Pottie, L.;
Hoorens, A.;
Mendes, M.;
De Bruyne, R.

Publication type:

Article

Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High‐Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70012

By:

Wu, Chi‐Tang;
Huang, Shih‐Ju;
Chen, Chu‐Chin;
Chiu, Pao‐Chin

Publication type:

Article

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70011

By:

Okamoto, Nobuhiko;
Kadoya, Machiko;
Wada, Yoshinao

Publication type:

Article

Successful Pregnancy Management of a Woman With Severe Methylmalonic Acidemia.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.70009

By:

Woidy, M.;
Tsiakas, K.;
Mahmud, M.;
Eich, G.;
Loos, S.;
Lisfeld, J.;
Schultz, S.;
Tallarek, A. C.;
Hecher, K.;
Huber, T. B.;
Muntau, A. C.;
Gramer, G.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 3, p. 1, doi. 10.1002/jmd2.12430
Publication type:: Article