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Items: 1 to 20 of 1785

1.
Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach
Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea
Orphanet J Rare Dis. 2025; 20: 8. Published online 2025 Jan 7. doi: 10.1186/s13023-025-03533-6
PMCID:
PMC11707931
AbstractArticlePDF–1.4M
2.
Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency
Barbara Siri, Benedetta Greco, Diego Martinelli, Sara Cairoli, Alessia Guarnera, Daniela Longo, Antonio Napolitano, Chiara Parrillo, Lucilla Ravà, Raffaele Simeoli, Gionata Spagnoletti, Roberta Taurisano, Silvio Veraldi, Andrea Pietrobattista, Marco Spada, Carlo Dionisi‐Vici
J Inherit Metab Dis. 2025 Jan; 48(1): e12843. Published online 2025 Jan 7. doi: 10.1002/jimd.12843
PMCID:
PMC11706762
AbstractArticlePDF–3.0M
3.
Optimizing the anesthetic care of patients with aromatic l‐amino acid decarboxylase deficiency
Megha K. Kanjia, Edmund H. Jooste, Melissa Illig, Jennifer Neifeld Capps, Christoph Eisner, Shou Zen Fan, Jerzy Lenarczyk, Rafał Wojdacz
Paediatr Anaesth. 2025 Feb; 35(2): 99–106. Published online 2024 Oct 22. doi: 10.1111/pan.15025
PMCID:
PMC11701947
AbstractArticlePDF–370K
4.
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India
Suneetha Susan Cleave Abraham, Anitha Barney, Sony Mohan, Praisy Joy, Paramasivam Ganesan, Sweta Das, Cleetus Cherupanakkal, Arun Jose, Rekha A., Andrea Zatkova, Sumita Danda
Indian J Med Res. 2024 Nov; 160(5): 448–456. Prepublished online 2024 Dec 19. Published online 2024 Dec 23. doi: 10.25259/ijmr_1900_23
PMCID:
PMC11683501
AbstractArticlePDF–500K
5.
Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease
Juan Ramón Tejedor, Alejandro Soriano‐Sexto, Leonardo Beccari, Natalia Castejón‐Fernández, Patricia Correcher, Lidia Sainz‐Ledo, Juan José Alba‐Linares, Rocío G. Urdinguio, Magdalena Ugarte, Agustín F. Fernández, Pilar Rodríguez‐Pombo, Mario F. Fraga, Belén Pérez
J Inherit Metab Dis. 2025 Jan; 48(1): e12829. Published online 2024 Dec 10. doi: 10.1002/jimd.12829
PMCID:
PMC11670297
AbstractArticlePDF–5.4M
6.
My path to citrin deficiency
John E. Walker
J Inherit Metab Dis. 2025 Jan; 48(1): e12818. Published online 2024 Nov 24. doi: 10.1002/jimd.12818
PMCID:
PMC11670154
AbstractArticlePDF–4.5M
7.
Long‐term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
François Feillet, Jean‐Baptiste Arnoux, María Bueno Delgado, Alberto Burlina, Brigitte Chabrol, Ece Kucuksayrac, Florian B. Lagler, Ania C. Muntau, David Olsson, Sabrina Paci, Frank Rutsch, Francjan J. van Spronsen, the KAMPER investigators
J Inherit Metab Dis. 2025 Jan; 48(1): e12796. Published online 2024 Sep 5. doi: 10.1002/jimd.12796
PMCID:
PMC11667744
AbstractArticlePDF–2.5M
8.
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein
Giovanni Bisello, Rossella Franchini, Cristian Andres Carmona Carmona, Mariarita Bertoldi
J Inherit Metab Dis. 2025 Jan; 48(1): e12791. Published online 2024 Aug 21. doi: 10.1002/jimd.12791
PMCID:
PMC11667656
AbstractArticlePDF–1.7M
9.
Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report
Jialin Mu, Yulin Li, Meng Sun, Panpan Li, Jingyun Wang, Hui Zou
Medicine (Baltimore) 2024 Dec 20; 103(51): e40957. Published online 2024 Dec 20. doi: 10.1097/MD.0000000000040957
PMCID:
PMC11666203
AbstractArticlePDF–998K
10.
Integrative in-silico and in-vitro analysis of taurine and vitamin B12 in modulating PPARγ and Wnt signaling in hyperhomocysteinemia-induced osteoporosis
Mazumder Adhish, I. Manjubala
Biol Direct. 2024; 19: 141. Published online 2024 Dec 20. doi: 10.1186/s13062-024-00581-z
PMCID:
PMC11662456
AbstractArticlePDF–6.6M
11.
Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina
Commun Biol. 2024; 7: 1641. Published online 2024 Dec 18. doi: 10.1038/s42003-024-07360-6
PMCID:
PMC11655531
AbstractArticlePDF–2.0M
12.
Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature
Qian Ma, Weiwei Wang
J Med Case Rep. 2024; 18: 624. Published online 2024 Dec 18. doi: 10.1186/s13256-024-04991-5
PMCID:
PMC11654439
AbstractArticlePDF–1.3M
13.
An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria
Pierfrancesco Mastroeni, Michela Geminiani, Tommaso Olmastroni, Luisa Frusciante, Alfonso Trezza, Anna Visibelli, Annalisa Santucci
J Cell Physiol. 2024 Dec; 239(12): e31449. Published online 2024 Oct 1. doi: 10.1002/jcp.31449
PMCID:
PMC11649963
AbstractArticlePDF–2.6M
14.
Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias
Anke Schumann, Ainhoa Martinez-Pizarro, Eva Richard, Christoph Schell, Anna Laura Kössinger, Karina A. Zeyer, Stefan Tholen, Oliver Schilling, Michael Barry, Björn Neubauer, Michael Köttgen, Luciana Hannibal, Lourdes R. Desviat, Ute Spiekerkötter
Sci Rep. 2024; 14: 30478. Published online 2024 Dec 16. doi: 10.1038/s41598-024-79572-z
PMCID:
PMC11649940
AbstractArticlePDF–3.2M
15.
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China
Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue
PeerJ. 2024; 12: e18173. Published online 2024 Dec 9. doi: 10.7717/peerj.18173
PMCID:
PMC11636536
AbstractArticlePDF–1.3M
16.
Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population
Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang
J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 501–506. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2024.2023-11-6
PMCID:
PMC11629732
AbstractArticlePDF–1.1M
17.
Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review
YIN Qing, YUAN Tianxiang, MA Jie, TANG Jianguang, TAN Xuling, YANG Li
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Aug 28; 49(8): 1363–1374. doi: 10.11817/j.issn.1672-7347.2024.240214
PMCID:
PMC11628222
AbstractArticlePDF–2.1M
18.
Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited
Jan-Inge Henter, Elena Sieni, Julia Eriksson, Elisabet Bergsten, Ida Hed Myrberg, Scott W. Canna, Maria Luisa Coniglio, Randy Q. Cron, Kate F. Kernan, Ashish R. Kumar, Kai Lehmberg, Francesca Minoia, Ahmed Naqvi, Angelo Ravelli, Yong-Min Tang, Matteo Bottai, Yenan T. Bryceson, AnnaCarin Horne, Michael B. Jordan, Histiocyte Society
Blood. 2024 Nov 28; 144(22): 2308–2318. Published online 2024 Jul 26. doi: 10.1182/blood.2024025077
PMCID:
PMC11619794
AbstractArticle
19.
Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran
Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh , Sorour Inaloo, Bita Geramizadeh
BMC Pediatr. 2024; 24: 795. Published online 2024 Dec 4. doi: 10.1186/s12887-024-05291-z
PMCID:
PMC11616211
AbstractArticlePDF–1.7M
20.
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
Jesmeen Maimaris, Adriel Roa-Bautista, Mahreen Sohail, Claire Booth, Chiara Cugno, Lenka Chenchara, Tawfeg Ben Omran, Yael Hacohen, Ming Lim, Kimberly Gilmour, Gillian Griffiths, Kanchan Rao, Reem Elfeky, Maaike Kusters
J Clin Immunol. 2025; 45(1): 50. Published online 2024 Nov 28. doi: 10.1007/s10875-024-01842-2
PMCID:
PMC11604824
AbstractArticlePDF–1.8M

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