Results 61 to 70 of about 4,948 (165)

Homocystinuria presenting with cerebral venous thrombosis: a case report highlighting progressive thrombosis

Frontiers in Cardiovascular Medicine
BackgroundHomocystinuria is a hereditary metabolic disorder primarily caused by defects in enzymes involved in methionine metabolism, resulting in excessive accumulation of homocysteine and its metabolites in the blood and urine.
Xiaomin Cui, Jinjing Chen, Jing Wang, Dezhi Qiu, Xianli Zhang   +4 more
doaj   +1 more source

A case series of Pyridoxine Resistant Classical Homocystinuria

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2019
Homocystinuria is an autosomal recessive disorder with the prevalence of 1;200000. It is due to the defect in the Methionine metabolism which results in accumulation of Homocysteine in the body. We report a series of patients with Homocystinuria followed
Imalke Kankananarachchi, Thilina Madushanka Munasinghe, Nayana Liyanarachchi, Sujeewa Amarasena   +3 more
doaj   +1 more source

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +1 more source

Navigating thrombotic terrain: unveiling a novel homocystinuria mutation associated with thrombophilia in a 16 year old

Bulletin of the National Research Centre
Background Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. Homocystinuria encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and
Poojitha Tulasi, Amulya Veeramachaneni, Niranjan Kamble, Darshan Rajatadri Rangaswamy   +3 more
doaj   +1 more source

Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan

Journal of the Pakistan Medical Association
Dear Editor, I wish to draw attention to an under-recognised but significant metabolic disorder, homocystinuria, which remains vastly underdiagnosed in Pakistan.
Muhammad Rizwan Farooq, Romaisa Sultan
doaj   +1 more source

Megalocornea and microspherophakia in homocysteinemia: A rare association

Indian Journal of Ophthalmology. Case Reports, 2023
Manju R Pillai, Sameer Chaudhary, Niyati P Gandhi, Toshit Varshney, Naresh B Kannan   +4 more
doaj   +1 more source

Homocistinemia, factor de riesgo oculto en la enfermedad cerebrovascular isquémica: Presentación de un caso

Revista Cubana de Medicina, 2003
La homocisteína y su metabolismo han sido objeto de estudios, desde la década de los 60, se ha considerado la relación existente entre ella y el desarrollo de aterosclerosis y enfermedades vasculares.
Liván Rodríguez Mutuberría, Yusimí Serra Valdés, Eduardo Álvarez González   +2 more
doaj  

Bilateral lens subluxation in a patient with homocystinuria: a case report. [PDF]

Am J Ophthalmol Case Rep
Zhan Z, Cai J, Wang J, Liu X, Nie D, Ma D.   +5 more
europepmc   +1 more source

Psychosis in the aftermath of stroke: Pyridoxine-responsive homocystinuria in an adolescent. [PDF]

Indian J Psychiatry
Kannappan R, Jayabalan S, Selvamani I, Nambi S.   +3 more
europepmc   +1 more source

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases. [PDF]

Arch Clin Cases
Kodali AT, Schrunder ER, Kennedy LS, Chamberlin MD, Pineda CUA.   +4 more
europepmc   +1 more source