Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective
Authors (first, second and last of 9)
Volume 12, issue 1, December 2017
188 articles in this issue
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Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients?
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Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
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A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
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Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience
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Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders
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Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
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An update on the use of biologic therapies in the management of uveitis in Behçet’s disease: a comprehensive review
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Efficacy of rituximab in non-paraneoplastic autoimmune retinopathy
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Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors
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Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study
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ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T
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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
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Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review
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Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases
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Repurposing propranolol as a drug for the treatment of retinal haemangioblastomas in von Hippel-Lindau disease
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
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Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics
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Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
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Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome
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Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III
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Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns – a nationwide cohort study
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Prenatal brain disruption in isolated sulfite oxidase deficiency
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Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders
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Open issues in Mucopolysaccharidosis type I-Hurler
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Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland
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International physician survey on management of FOP: a modified Delphi study
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Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease
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Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism
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The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children’s Hospital
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The cost of severe haemophilia in Europe: the CHESS study
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Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever
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Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
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Depression in patients with SAPHO syndrome and its relationship with brain activity and connectivity
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A plea to provide best evidence in trials under sample-size restrictions: the example of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients
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PIGO deficiency: palmoplantar keratoderma and novel mutations
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Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy
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Whipple’s disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure
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Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma
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Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)
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Vinblastine chemotherapy in adult patients with langerhans cell histiocytosis: a multicenter retrospective study
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Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study
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Thalassemias in South Asia: clinical lessons learnt from Bangladesh
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Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia
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Quantification of gait in mitochondrial m.3243A > G patients: a validation study
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Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
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