Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Authors (first, second and last of 30)
This is part of 1 collection:
Volume 10, issue 1, December 2015
163 articles in this issue
-
-
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I
Authors (first, second and last of 8)
-
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile
Authors (first, second and last of 11)
This is part of 1 collection: -
-
Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat
Authors (first, second and last of 5)
This is part of 1 collection:
-
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency
Authors (first, second and last of 7)
This is part of 1 collection:
-
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Authors (first, second and last of 28)
This is part of 1 collection: -
Novel grading system for quantification of cystic macular lesions in Usher syndrome
Authors (first, second and last of 4)
This is part of 1 collection:
-
Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency
Authors (first, second and last of 8)
This is part of 1 collection:
-
Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study
Authors (first, second and last of 6)
This is part of 1 collection:
-
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
Authors (first, second and last of 9)
This is part of 1 collection:
-
Prevalence, incidence, and age at diagnosis in Marfan Syndrome
Authors (first, second and last of 10)
This is part of 1 collection:
-
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta
Authors (first, second and last of 7)
This is part of 1 collection:
-
Zellweger spectrum disorders: clinical overview and management approach
Authors (first, second and last of 6)
This is part of 1 collection:
-
Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers
Authors (first, second and last of 7)
This is part of 1 collection: -
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease
Authors (first, second and last of 9)
This is part of 1 collection:
-
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Authors (first, second and last of 26)
This is part of 1 collection:
-
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
Authors (first, second and last of 13)
This is part of 1 collection:
-
Initial report of the osteogenesis imperfecta adult natural history initiative
Authors (first, second and last of 11)
This is part of 1 collection:
-
Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
Authors (first, second and last of 10)
This is part of 1 collection:
-
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia
Authors (first, second and last of 4)
This is part of 1 collection:
-
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis
Authors (first, second and last of 6)
This is part of 1 collection:
-
-
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
Authors (first, second and last of 8)
This is part of 1 collection:
-
Rare genetic disease in China: a call to improve clinical services
Authors
This is part of 1 collection: -
Review and comparison of clinical evidence submitted to support European Medicines Agency market authorization of orphan-designated oncological treatments
Authors (first, second and last of 4)
-
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Authors (first, second and last of 22)
This is part of 1 collection:
-
Mortality-related resource utilization in the inpatient care of hypoplastic left heart syndrome
Authors (first, second and last of 6)
-
-
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Authors (first, second and last of 54)
-
47 patients with FLNA associated periventricular nodular heterotopia
Authors (first, second and last of 24)
This is part of 1 collection:
-
Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin
Authors (first, second and last of 8)
-
Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency
Authors (first, second and last of 8)
-
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
Authors (first, second and last of 14)
-
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states
Authors (first, second and last of 6)
-
Erratum to: Establishing medical plausibility in the context of orphan medicines designation in the European Union
Authors (first, second and last of 8)
-
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Authors (first, second and last of 16)
-
-
Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms
Authors (first, second and last of 4)
-
Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment
Authors
This is part of 1 collection:
-
Unmet needs for healthcare and social support services in patients with Huntington’s disease: a cross-sectional population-based study
Authors (first, second and last of 5)
This is part of 1 collection:
-
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Authors (first, second and last of 36)
This is part of 1 collection:
-
Categorizing diffuse parenchymal lung disease in children
Authors (first, second and last of 17)
This is part of 1 collection:
-
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Authors (first, second and last of 8)
This is part of 1 collection:
-
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
Authors (first, second and last of 8)
-
Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
Authors (first, second and last of 11)
-
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients
Authors (first, second and last of 8)
-
Genital ulcer severity score and genital health quality of life in Behçet’s disease
Authors (first, second and last of 4)
This is part of 1 collection:
-
-
Ichthyosis with confetti: clinics, molecular genetics and management
Authors (first, second and last of 5)
This is part of 1 collection:
