The Center for Diagnostic and Advanced Metabolic Studies of Cantabria, is specialized in the detection of inherited metabolic diseases, also called Inborn Errors of Metabolism IEM , a large group of Rare Genetic disorders that affect at biochemical or cellular level of the organism, with serious consequences for the person who suffers. City :. Follow us on. Event organised.
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Inherited metabolic disorders including the eye: a clinic-biochemical perspective. Acta Pediatr Mex. Barth PG, Duran M. The eye as window to inborn errors of metabolism. J Inherit Metab Dis. Current Eye Res. Classical galactosemia in Ireland: incidence, complications and outcomes of treatment. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: Report of a case and review of the literature.
Surv Ophthalmol. Ophthalmological manifestations of Fabry disease. Arch Soc Esp Oftalmol. Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome. Clin Genet. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update.
Mol Genet Metab. Arq Bras Oftalmol. Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. Human Mutat. Walter JH, Christodoulou J. Costeff optic atrophy syndrome: New clinical case and novel molecular findings. A clinical approach to inherited metabolic diseases. Inborn Metabolic Diseases. Germany: Springer; Genet Test. Subacute bilateral visual loss in Methylmalonic Acidemia.
Neuro-Ophthal J. Acta Pediatr Mex ;33 1 Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. Br J Ophthalmol. Glucose-6 phosphatase deficiency. Ortphanet J Rare Dis. A child with night blindness. Preventing serious symptoms of Refsum disease.
J Child Neurol. Clinical, molecular and biochemical characterization of nine Spanish families with Conraid-Hunermann-Haple Syndrome: new insights into X-linked dominant chondrodysplasia punctate with a comprehensive review of the literature. Br J Dermatol. Ocular manifestations as key features for diagnosing mucopolysaccharidosis.
Arch Ophthalmol. Inherited copper transport disorders: Biochemical mechanisms, diagnosis and treatment. Curr Drug Metabol. Barraquer RI, Barraquer E. Cerebrotendinous Xanthomatosis: A treatable disease with juvenile cataracts as a presenting sign. Online Mendelian inheritance in man. Johns Hopkins University. Online Catalog of human genes and genetic disorders.
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Enfermedades congénitas del metabolismo en el periodo neonatal (I). Generalidades
Propionic acidemia AP is an organic acidemia AO with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids. Clinical case.
2013, Número 4
Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Title: Inborn errors of metabolism during the neonatal period I. General aspects Inborn errors of metabolism are rare at the individual level, but are common at the collective level, due to the great number of entities described in recent years. The first signs are often detected during the neonatal period.