46,213 results match your criteria: "Genetic Diseases Inborn"

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Gene therapies for neurogenetic disorders.
Orrin Devinsky, Jeff Coller, Rebecca Ahrens-Nicklas, X Shawn Liu, Nadav Ahituv

Trends Mol Med· September 2025

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Nicotinamide Riboside Supplementation Benefits in Patients With Werner Syndrome: A Double-Blind Randomized Crossover Placebo-Controlled Trial.
Mayumi Shoji, Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yusuke Baba

Aging Cell· August 2025

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Genetic history of Scythia.
Tatiana V Andreeva, Anna D Soshkina, Fedor E Gusev, Alexandra B Malyarchuk, Gleb S Dotsenko

Sci Adv· July 2025

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Investigating telomere length in progeroid syndromes: implications for aging disorders.
Luma Srour, Abeer Qannan, Junko Oshima, Andre Megarbane, Yosra Bejaoui

Aging (Albany NY)· May 2025

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Value of cannabidiol as adjunctive treatment for Lennox Gastaut syndrome: cost-effectiveness and budget impact analysis.
Zahra Goudarzi, Farhad Lotfi, Rahil Sadat Shahtaheri, Nasrin Moradi, Mohsen Taghizadeh

BMC Med· March 2025

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Ceramides and Skin Health: New Insights.
Tze Lek Yong, Rahela Zaman, Navedur Rehman, Chung Keat Tan

February 2025

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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Kourtney Santucci, Kristina E Malik, Katie Angione, Dana Bennink, Andrea Gerk

Clin Genet· February 2025

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Updates to Male Infertility: AUA/ASRM Guideline (2024).
Robert E Brannigan, Linnea Hermanson, Janice Kaczmarek, Sennett K Kim, Erin Kirkby

J Urol· December 2024

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Werner syndrome RECQ helicase participates in and directs maintenance of the protein complexes of constitutive heterochromatin in proliferating human cells.
Pavlo Lazarchuk, Matthew Manh Nguyen, Crina M Curca, Maria N Pavlova, Junko Oshima

Aging (Albany NY)· October 2024

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Gene Therapy with Fidanacogene Elaparvovec in Adults with Hemophilia B.
Adam Cuker, Kaan Kavakli, Laurent Frenzel, Jiaan-Der Wang, Jan Astermark

N Engl J Med· September 2024

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Datasets-Based Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia

Curr Eye Res· August 2024

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Relationships between obesity and prevalence of gout in patients with type 2 diabetes mellitus: a cross-sectional population-based study.
Ningyu Cai, Mengdie Chen, Ping Feng, Qidong Zheng, Xianping Zhu

BMC Endocr Disord· August 2024

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Neurological symptoms in adults with Gaucher disease: a systematic review.
Gabriele Imbalzano, Claudia Ledda, Alberto Romagnolo, Anna Covolo, Leonardo Lopiano

J Neurol· July 2024

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The child who lived: Down syndrome among Neanderthals?
Mercedes Conde-Valverde, Amara Quirós-Sánchez, Julia Diez-Valero, Nieves Mata-Castro, Alfredo García-Fernández

Sci Adv· June 2024

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CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Shanzhen Peng, Jing Jing Li, Wanying Song, Ye Li, Lei Zeng

March 2024

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Joan C Han, Marcus C Rasmussen, Alison R Forte, Stephanie B Schrage, Sarah K Zafar

December 2023

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Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD-a randomized controlled trial.
Sadrija Cukoski, Christoph Heinrich Lindemann, Sita Arjune, Polina Todorova, Theresa Brecht

Cell Rep Med· November 2023

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UK first to approve CRISPR treatment for diseases: what you need to know.
Carissa Wong

Nature· November 2023

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Preclinical investigations on broccoli-derived sulforaphane for the treatment of ophthalmic disease.
Faith A A Kwa, Bang V Bui, Bruce R Thompson, Lauren N Ayton

September 2023

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Utilization of light-emitting diodes for skin therapy: Systematic review and meta-analysis.
Le Thi Nhu Ngoc, Ju-Young Moon, Young-Chul Lee

Photodermatol Photoimmunol Photomed· July 2023

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Effects of probiotics administration on lactose intolerance in adulthood: A meta-analysis.
Sung-Il Ahn, Moon Seong Kim, Dong Gun Park, Bok Kyung Han, Young Jun Kim

J Dairy Sci· July 2023

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Lysosomal cystine export regulates mTORC1 signaling to guide kidney epithelial cell fate specialization.
Marine Berquez, Zhiyong Chen, Beatrice Paola Festa, Patrick Krohn, Svenja Aline Keller

Nat Commun· July 2023

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GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy.
Lisa N Kasiewicz, Souvik Biswas, Aaron Beach, Huilan Ren, Chaitali Dutta

Nat Commun· May 2023

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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Marina Cuchel, Paul C Lee, Lisa C Hudgins, P Barton Duell, Zahid Ahmad

J Am Heart Assoc· May 2023

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Income and emotional well-being: A conflict resolved.
Matthew A Killingsworth, Daniel Kahneman, Barbara Mellers

Proc Natl Acad Sci U S A· March 2023

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Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Evan S Sinnathamby, Peter P Issa, Logan Roberts, Haley Norwood, Kevin Malone

Adv Ther· March 2023

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Sleep impairment in patients with chronic inflammatory skin diseases: A review of mechanisms and management.
Grace Y Duan, Jonathan I Silverberg

J Am Acad Dermatol· February 2023

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Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker syndrome: a report of four cases and review of literature.
Weiping Wang, Yabing Zhou, Jia Wei, Weiwei Mao, Lingzhao Min

Childs Nerv Syst· December 2025

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The TIM22 carrier translocase supports cell proliferation by facilitating mitochondrial iron uptake for Fe-S biogenesis.
Shuai Liu, Qingyu Li, Mengye Cao, Zefang Bimo Zhao, Cong Liu

Mol Cell· December 2025

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Characterization of Treatment Utilization in a Metabolic Genetics Clinic.
Mary Riedy, Jessica Briggs, Taosheng Huang

J Pediatr Pharmacol Ther· December 2025

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P06 Adenosine deaminase deficient-severe combined immunodeficiency and multicentric dermatofibrosarcoma protuberans: an emerging association.
William Fostier, Louis Gardner, Fraser Charlton, Anna Dubois, Andrew R Gennery

Br J Dermatol· December 2025

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Obstetric history of women with m.3243A>G: an observational cohort study.
Petra Kuikka, Hilkka Nikkinen, Kari Majamaa, Mika Henrik Martikainen

J Med Genet· December 2025

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Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.
Zhijuan Kang, Xinying Qiu, Yixing Ma, Liang Zhang

Immunol Res· December 2025

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Comprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic gene disorders via the Sanger sequencing technique.
Safin T Haias, Zahra A Amin

Mol Biol Rep· December 2025

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Anxiety and stress in parents as well as the burden of raising a child with classical galactosemia.
Amanda Krzywdzińska-Rogowska, Aleksandra Gozdanek, Anna Bauer, Barbara Radomyska, Kamil K Hozyasz

Psychiatr Pol· August 2025

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Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity.
Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard

J Hum Immun· September 2025

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Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns.
Azzeddine Tahiat, Souad Touri, Amina Saad-Djaballah, Saliha Hakem, Faiza Fernini

Front Immunol· December 2025

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DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, Stefania Massuras, Veronica Pagliardini

Am J Med Genet A· December 2025

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Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Miroslaw Bik-Multanowski, Sylwia Bobis-Wozowicz, Marcin Piejko, Anna Madetko-Talowska, Katarzyna Szewczyk

Sci Rep· December 2025

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Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Mansooreh Jafari, Fatemeh Karami, Iman Salahshourifar, Aria Setoodeh, Ali Rahmanifar

Mol Biol Rep· December 2025

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Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).
Ming-Jia Li, Miao-Miao Zhao, Qi Li, Hanna Kim, Ruo-Qi Feng

Mol Genet Metab· December 2025

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Toll-like Receptors in Inborn Errors of Immunity in Children: Diagnostic Potential and Therapeutic Frontiers-A Review of the Latest Data.
Aleksandra Jurczuk, Paulina Bałdyga, Adam Płoński, Maria Jurczuk, Marzena Garley

Cells· December 2025

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From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism.
Júlio César Rocha, Anne Daly, Anita MacDonald

J Inherit Metab Dis· January 2026

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Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort.
Najla Alsediq, Thekra Algholaiqa, Ghadah Alnami, Abdulrahman N AlJaber

Front Immunol· December 2025

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Update on glycogen storage disease: a brief review of the main disorders.
Ayed A Dera, Mesfer Al Shahrani, Gaffar Sarwar Zaman, Ahmad Mohammed Asiri, Abdullah Alasmari

Cell Mol Biol (Noisy-le-grand)· December 2025

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A review of recent studies on CRISPR/Cas9-mediated genome editing in a variety of muscle-related genetic disorders.
Guangchao Lyu, Pengjun Li, Weian Lang

J Transl Med· December 2025

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Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.
Gerhard Kindle, Mickaël Alligon, Michael H Albert, Matthew Buckland, J David Edgar

J Hum Immun· September 2025

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The seven enigmas of SARS-CoV-2: from the past to the future.
Evangelos Andreakos, Lisa Arkin, Paul Bastard, Alexandre Bolze, Alessandro Borghesi

J Hum Immun· November 2025

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Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.
Ewa Głąb-Jabłońska, Joanna Taybert, Anna Wiśniewska, Mariola Sasin-Rokita, Mariusz Ołtarzewski

J Mother Child· February 2025

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Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean-Baptiste Arnoux

J Inherit Metab Dis· January 2026

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Urolithiasis Due to Adenine Phosphoribosyl Transferase (APRT) Deficiency: A Case Report and Practical Recommendations in Children.
Khaled Lajmi, Kahena Bouzid, Najoua Blaiech, Sameh Mabrouk, Selsabil Nouir

Arch Esp Urol· November 2025

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Intragenic loss-of-function variants in transcription factors , and in colobomatous microphthalmia.
Sarah E Seese, Linda M Reis, Adele Schneider, Tanya Bardakjian, Elena V Semina

J Med Genet· December 2025

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A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds.
Pauline Ober, Christelle Lenoir, Arnaud Maillard, Marie-Gabrielle Vigue, Marjolaine Willems

J Hum Immun· January 2026

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Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism.
Timo Keskinen, Sami Jalil, Irem Gümüşoğlu, Juhana Juutila, Nadim Kestilä

J Inherit Metab Dis· January 2026

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