Results 31 to 40 of about 10,319 (231)
Isolated aortic root dilation in homocystinuria [PDF]
, 2017 BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE +8 more
core +2 more sources
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
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
Effect of Combination Folic Acid, Vitamin B6 , and Vitamin B12 Supplementation on Fracture Risk in Women: A Randomized, Controlled Trial. [PDF]
, 2017 Epidemiologic studies have demonstrated an association of elevated plasma homocysteine levels with greater bone resorption and fracture risk. Vitamins B12 , B6 , and folic acid are cofactors in homocysteine metabolism, and supplementation with B vitamins
Bauer, Douglas C +8 more
core +1 more source
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids [PDF]
, 1974 The effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids was studied and the following results were obtained.
Ikegami, T. +3 more
core +1 more source
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
JIMD Reports, 2019 Background Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens
John Allen +5 more
doaj +1 more source