ectopia lentis/epileptični krč

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Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby.

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Prijava / prijava

BACKGROUND Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage. Symptoms, signs and cerebral images can resemble those attributed to intrapartum hypoxia. In humans, molybdenum cofactor (MOCO) has been

Homocystinuria in Thai patient--Phramongkutklao Hospital experience.

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Prijava / prijava

Homocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I) homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine. The authors report a 15-year-old Thai

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

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Prijava / prijava

BACKGROUND Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism. OBJECTIVE To

Homocystinuria: pathogenetic mechanisms.

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Prijava / prijava

Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution. The major clinical

[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report].

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Prijava / prijava

Homocystinuria is an inborn error of methionine metabolism, of which cause is mainly deficiency of cystathionine synthetase. The major clinical manifestations of homocystinuria are mental retardation, seizures, ectopia lentis, skeletal deformities and occlusive vascular disease. A case of

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.

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Prijava / prijava

Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein

The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.

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Prijava / prijava

We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations.We summarize the genetic and clinical findings of previously reported patients with a MOCS2 mutation. We also present a new patient with novel

Infantile isolated sulphite oxidase deficiency in a Chinese family: a rare neurodegenerative disorder.

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Prijava / prijava

We report the clinical, biochemical, neuroradiological, and neurophysiological findings of a 4-year-old Chinese girl with infantile isolated sulphite oxidase deficiency. This is the first reported case in our locality. She presented at the age of 5 months with refractory seizures and developmental

Biochemistry of homocysteine in health and diseases.

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Prijava / prijava

The amino acid homocysteine (Hcy), formed from methionine has profound importance in health and diseases. In normal circumstances, it is converted to cysteine and partly remethylated to methionine with the help of vit B12 and folate. However, when normal metabolism is disturbed, due to deficiency of

Isolated sulfite oxidase deficiency: review of two cases in one family.

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Prijava / prijava

OBJECTIVE The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of

Saudi experience with classic homocystinuria.

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Prijava / prijava

BACKGROUND Classic homocystinuria is an autosomal recessive disorder due to cystathionine ss-synthase deficiency. The clinical, radiological and neurophysiological findings of classic homocystinuria diagnosed at King Faisal Specialist Hospital and Research Centre (KFSH&RC) are presented in this

Sulfite oxidase deficiency--an unusual late and mild presentation.

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Prijava / prijava

BACKGROUND Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic

Isolated sulfite oxidase deficiency.

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Prijava / prijava

Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be

Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients.

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Prijava / prijava

Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabolism, caused by mutation in SUOX gene. ISOD has two kind of presentation; early and late-onset. The late-onset form is extremely rare and only 10 cases have been

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

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Prijava / prijava

Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have been reported in the literature. We report a case of a newborn infant boy with isolated sulfite oxidase deficiency

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