Results 51 to 60 of about 6,563 (194)

Case report: Spontaneous bilateral intraocular lens dislocation in a patient with homocystinuria

Frontiers in Cardiovascular Medicine, 2022
BackgroundSpontaneous bilateral intraocular lens dislocation of the vitreous cavity is a rare ocular disorder. This article aims to comprehensively describe bilateral spontaneous intraocular lens dislocation with unilateral lamellar macular hole and ...
Bangtao Yao, Xujian Chen, Gang Liu, Xiaogui Zhao   +3 more
doaj   +1 more source

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source

Familial homocystinuria [PDF]

, 2005
Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye.
Usman, M, Khurshid, Mohammad, Bilwan, F, Syed, NA   +3 more
core  

Recurrent dystonia in homocystinuria: a metabolic pathogenesis

, 2006
Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine beta-synthase deficiency ...
Nightingale, Simon, Barling, L, Sinclair, Alexandra   +2 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Homocystinuria with transverse sinus thrombosis

, 2001
A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed.
Massimo Molinelli, FOIS, A., Sergio Pieri, MEDAGLINI, S., Aldo Mariottini, Mirella Strambi, BUONI, S., Alberto Fois, MARIOTTINI, A., RANGO, C., STRAMBI, M., MOLINELLI, M., Caterina Rango, Sabrina Buoni, Sergio Medaglini, PIERI, S.   +15 more
core   +1 more source

Homocystinuria in adult patients [PDF]

, 2014
Klasična homocistinurija je aminoacidopatija prvi put opisana 1962. godine. Nastaje kao posljedica nemogućnosti razgradnje i povećane koncentracije aminokiseline homocisteina u cirkulaciji. Do povećane koncentracije homocisteina u plazmi/serumu i urinu
Muačević Katanec, Diana, Diana Muačević Katanec, Merkler, Marjan, Željko Reiner, Reiner, Željko, Merkler, Ana, Fumić, Ksenija, Ana Merkler, Barić, Ivo, Marjan Merkler, Ksenija Fumić, Ivo Barić   +11 more
core   +1 more source

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

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis

Nursing Open, Volume 13, Issue 4, April 2026.
ABSTRACT Aim To explore what is known about the intersection of mental health and rare diseases. Design Narrative review with peer‐reviewed literature from 2009 onwards. Methods The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary ...
Eileen Wu, Sophie Isobel, Paul Beckett
wiley   +1 more source

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency

BMC Medical Genomics, 2022
Background Homocystinuria due to methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. The purpose of this study is to expand the mutation site of the MTHFR gene and provide genetic counseling for this family ...
Yitong Lu, Shaozhi Zhao, Xiaohui He, Hua Yang, Xiaolei Wang, Chen Miao, Hongwei Liu, Xinwen Zhang   +7 more
doaj   +1 more source