Results 31 to 40 of about 4,846 (139)
Homocystinuria with Stroke and Positive Familial History
Advanced Biomedical Research, 2017 Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities.
Ali Mazaheri +2 more
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FEVR-Like Presentation of Homocystinuria
Case Reports in Ophthalmological Medicine, 2014 A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria.
Lorena A. Montalvo +4 more
doaj +1 more source
Lens subluxation in a patient with homocystinuria. Case report
Journal of Ophthalmology, 2021 Homocystinuria is an inborn error of metabolism caused by cystathionine b-synthetase deficiency, with autosomal recessive inheritance. The clinical picture is characterized by skeletal changes, mental deficit, lens subluxation, and a tendency to ...
Garduño-Vieyra Leopoldo +1 more
doaj +1 more source
Journal of Medical Case Reports, 2008 Introduction Non-heritable factors may have an influence on the clinical expression of monogenic inherited metabolic diseases. Case presentation This is a case report of a man whose mother had been diagnosed late in childhood with pyridoxine responsive ...
Maillot Francois +2 more
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Novel WDR62 and MTR Variants in a Patient With Autosomal Recessive Primary Microcephaly-2 With Polymicrogyria and Homocystinuria-Megaloblastic Anemia [PDF]
Disease and Diagnosis, 2022 Background: Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic ...
Tahereh Dianat +3 more
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Anesthetic management of a child with homocystinuria
Journal of the Scientific Society, 2018 Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. It is most often diagnosed in childhood and has variable expressions. We report a case of a 7-year-old male
Chaitanya A Kamat +3 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang +5 more
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Homocystinuria presenting as a calcified right atrial mass
Annals of Pediatric Cardiology, 2018 Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous ...
Tahleel Altaf Shera +3 more
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International Journal of Neonatal Screening, 2021 To minimize false-positive cases in newborn screening by tandem mass spectrometry in Japan, practical second-tier liquid chromatography-tandem mass spectrometry analyses have been developed using a multimode ODS column with a single set of mobile phases ...
Yosuke Shigematsu +4 more
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Frontiers in Neurology, 2019 Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life.
Muhammad Wasim +9 more
doaj +1 more source