Volume 5, issue 1, December 2010
40 articles in this issue
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Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
Authors (first, second and last of 7)
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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Authors (first, second and last of 5)
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Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
Authors (first, second and last of 7)
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The diagnosis of inherited metabolic diseases by microarray gene expression profiling
Authors (first, second and last of 9)
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Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
Authors (first, second and last of 10)
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In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages
Authors (first, second and last of 11)
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In vivo effects of antibodies from patients with anti-NMDA receptor encephalitis: further evidence of synaptic glutamatergic dysfunction
Authors (first, second and last of 5)
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A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
Authors (first, second and last of 5)
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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Authors (first, second and last of 15)
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Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers
Authors (first, second and last of 12)
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Bleeding disorders in the tribe: result of consanguineous in breeding
Authors (first, second and last of 11)
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Silver-Russell syndrome: genetic basis and molecular genetic testing
Authors (first, second and last of 4)
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Rituximab ameliorated severe hearing loss in Cogan's syndrome: a case report
Authors (first, second and last of 6)
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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Authors (first, second and last of 4)
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Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism
Authors
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A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Authors (first, second and last of 6)
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Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report
Authors (first, second and last of 6)
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Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009
Authors (first, second and last of 27)
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Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report
Authors (first, second and last of 5)
