Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
Authors (first, second and last of 13)
Volume 7, issue 1, December 2012
103 articles in this issue
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Authors (first, second and last of 6)
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Authors (first, second and last of 7)
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Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases
Authors (first, second and last of 6)
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Serological diagnosis of autoimmune bullous skin diseases: Prospective comparison of the BIOCHIP mosaic-based indirect immunofluorescence technique with the conventional multi-step single test strategy
Authors (first, second and last of 10)
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Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance
Authors (first, second and last of 8)
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The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases
Authors (first, second and last of 5)
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
Authors (first, second and last of 8)
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Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population
Authors (first, second and last of 12)
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Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency
Authors (first, second and last of 10)
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Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
Authors (first, second and last of 9)
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A national internet-linked based database for pediatric interstitial lung diseases: the French network
Authors (first, second and last of 32)
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A generalizable pre-clinical research approach for orphan disease therapy
Authors (first, second and last of 10)
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Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
Authors (first, second and last of 4)
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The empowerment of translational research: lessons from laminopathies
Authors (first, second and last of 41)
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Authors (first, second and last of 14)
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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
Authors (first, second and last of 12)
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Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta
Authors (first, second and last of 5)
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A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
Authors (first, second and last of 13)
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Suggested guidelines for the diagnosis and management of urea cycle disorders
Authors (first, second and last of 15)
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3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
Authors (first, second and last of 18)
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Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Authors (first, second and last of 14)
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Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency
Authors (first, second and last of 16)
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Improvement of genetic stability in lymphocytes from Fanconi anemia patients through the combined effect of α-lipoic acid and N-acetylcysteine
Authors (first, second and last of 7)
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A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
Authors (first, second and last of 5)
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Hypoglycaemia related to inherited metabolic diseases in adults
Authors (first, second and last of 6)
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
Authors (first, second and last of 9)
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Authors (first, second and last of 17)
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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
Authors (first, second and last of 17)
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Authors (first, second and last of 21)
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
Authors (first, second and last of 9)
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Public support for neonatal screening for Pompe disease, a broad-phenotype condition
Authors (first, second and last of 9)
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Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France
Authors (first, second and last of 7)
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Endocrine manifestations related to inherited metabolic diseases in adults
Authors (first, second and last of 6)
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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms
Authors (first, second and last of 12)
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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Authors (first, second and last of 8)
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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
Authors (first, second and last of 13)
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Authors (first, second and last of 15)
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Clinical expression of Menkes disease in females with normal karyotype
Authors (first, second and last of 14)
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ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure
Authors (first, second and last of 10)
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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Authors (first, second and last of 24)
