Results 71 to 80 of about 1,993 (190)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Figure S1, Figure S2 from Upregulation of E3 Ubiquitin Ligase CBLC Enhances EGFR Dysregulation and Signaling in Lung Adenocarcinoma

, 2018
Figure S1- CBLC expression is upregulated in NSCLC cell lines and clinical patients. Figure S2- Negative correlation between CBLC promoter methylation and mRNA expression in TCGA LUAD and LUSC studies.
Yu-Rung Kao (14899127), Te-Chang Lee (15127), Shiao-Ya Hong (14945308), Cheng-Wen Wu (656139)   +3 more
core   +1 more source

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Orphanet Journal of Rare Diseases, 2022
Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed.
Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang   +17 more
doaj   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]

Genes (Basel)
Background: Methylmalonic acidemia combined with homocystinuria (cblC) can lead to infantile maculopathy. Although significant visual deterioration is commonly reported in early-onset cblC, we found poor awareness regarding formal assessments of ocular ...
Michieletto P, Baldo F, Madonia M, Zupin L, Pensiero S, Bonati MT.   +5 more
europepmc   +2 more sources

A biophysical approach to study an orphan disease: the case of CblC, a rare disorder of vitamin B12 intracellular metabolism [PDF]

, 2023
The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism. The affected children manifest devastating symptoms involving vision, growth, and learning.
Ortore M. G., Costa M. A., Milani M., Passantino R., De Rosa M., Mangione M. R., Randazzo L., Vilasi S., Martorana V., Bollati M., Longo L., Carrotta R.   +11 more
core  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Chronic lymphocytic leukemia with IGH::BCL3‐translocation is characterized by a homogeneous and distinct genetic and epigenetic landscape

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Approximately 1% of chronic lymphocytic leukemia (CLL) cases harbor a translocation juxtaposing the immunoglobulin heavy chain (IGH) and B‐cell lymphoma 3 (BCL3) loci. Aiming at comprehensive molecular characterization of IGH::BCL3‐positive B‐cell neoplasms, we here investigated samples from 84 patients using fluorescence in situ hybridization
Cosima Drewes, Cristina López, Juan Emilio Martinez‐Manjón, Nnamdi Okeke, Billy Jebaraj, Susanne Bens, Björn Brändl, Martin J. S. Dyer, Barbara Eichhorst, Anja Fischer, Kirsten Fischer, Sandra Robrecht, Michael Hallek, Selina Glaser, Sina Hillebrecht, Sandrine Jayne, Helene Kretzmer, Anja Mottok, Franz‐Josef Müller, Christof Schneider, Ole Ammerpohl, Coral del Val, Stephan Stilgenbauer, Eugen Tausch, Reiner Siebert   +24 more
wiley   +1 more source

Additional file 1 of Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

, 2022
Additional file 1. Supplemental Figure S1. Genome-wide density distribution of CpG probes in the 17 DNA methylome profiles of the 17 patients with MMACHC epimutation (epi-cblC disease, isolated MMACHC epimutation, biallelic MMACHC epimutation)
François Feillet (3455519), Can Ficicioglu (7248680), Jean-François Benoist (337673), David Trégouët (12434127), Mihaela Pupavac (12434130), Jacek Majewski (65417), Renzo Guerrini (213811), Catia Cavicchi (11070072), Youssef Siblini (11780953), Jean-Louis Guéant (12434133), Pierre-Emmanuel Morange (161602), D. Sean Froese (1317090), Pierre Rouyer (11780956), Tomi Pastinen (15737), Abderrahim Oussalah (11070075), Amelia Morrone (5844863), Sébastien Hergalant (9912435), Wendy K. Chung (7249601), Céline Chéry (3487430), David Watkins (384424), David S. Rosenblatt (5829257), Matthias R. Baumgartner (2608309)   +21 more
core   +1 more source