ectopia lentis/oxidase

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[Sulfite oxidase deficiency presenting as Leigh syndrome].

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Prijava / prijava

BACKGROUND An enzyme deficiency can be demonstrated in 15 to 20% of cases of Leigh syndrome. A case of isolated sulphite oxidase deficiency is reported in a girl presenting with Leigh syndrome. METHODS An 8 month-old girl was admitted suffering from hypotonia and slow increase of head circumference

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

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.

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Prijava / prijava

Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. Sulfite and S-sulfocysteine were also

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

Congenital ectopia lentis. A Danish national survey.

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Prijava / prijava

OBJECTIVE To elucidate demographic and nosologic characteristics of congenital ectopia lentis (ECL) in Denmark. METHODS A register of affected persons was established based on information provided from medical records and files in a nation-wide retrospective study, the Danish

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

Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey.

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Prijava / prijava

In order to elucidate demographic and nosologic characteristics of Marfan syndrome (MS) and other systemic disorders associated with congenital ectopia lentis (ECL) in Denmark, a register of affected persons was established in a nationwide retrospective study. Three hundred and forty patients with

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

Genetics of ectopia lentis.

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Prijava / prijava

Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutations have been identified for lens

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

Proteomic Analysis of the Bovine and Human Ciliary Zonule.

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Prijava / prijava

The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies, including microspherophakia and ectopia lentis. Here, we used

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