Results 71 to 80 of about 6,563 (194)
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha +2 more
wiley +1 more source
Overview of homocystinuria - types, symptoms and treatment
, 2016 Homocystinuria is an autosomal recessively inherited disorder of the methionine metabolism that leads to abnormal levels of methionine and homocysteine in the blood and urine. Homocysteine is metabolized to cysteine or methionine.
Shopov, Georgi; Medical University of Varna +3 more
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Lenticular Subluxation in a Patient with Homocystinuria Undetected by Neonatal Screening [PDF]
, 2007 A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria.
Kao, Chuan-Hong +4 more
core +1 more source
Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis
Journal of Pediatric and Neonatal Individualized Medicine, 2015 Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu +4 more
doaj +1 more source
Homocystinuria occurring with pneumothorax : a case report [PDF]
, 1996 The homocystinurias are a group of autosomal recessive disorders which are caused by various inborn errors of metabolism. Tnese disorders are characterized by high plasma and urinary ieveis of homocysteine and methionine, and low levels of cysteine.
LaGrave, Danielle
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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 +17 more
core +1 more source
Education of patients with homocystinuria [PDF]
, 2018 My bachelor thesis deals with the issue of education of patients and parents of underage patients with homocystinuria. It focuses on the nursing role of a nurse in a metabolic ambulance, where these patients are dispensarized.
Paterová, Terezie
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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 +3 more
doaj +1 more source
Excel Diet for Homocystinuria: How Can We Use? [PDF]
, 2010 Background: Methionine restricted diet prevents homocystinuria complications, seems like Marfan syndrome. Homocystinuria is a metabolism disease but Marfan syndrome is a genetic disorder have similar symptoms. But only homocystinuria have neuropsycologic
MD Binnur Tüzün
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