• Publications
  • Influence
Suggested guidelines for the diagnosis and management of urea cycle disorders
TLDR
These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
TLDR
This revised guideline for diagnosis and therapy of urea cycle disorders will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices, and may also promote the identification of knowledge voids to be filled by future research.
Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy
TLDR
The identification of this new, severe, lethal phenotype characterized by subtotal brain degeneration broadens the phenotypic spectrum of SLC19A3 mutations.
Clinical presentation and outcome in a series of 88 patients with the cblC defect
TLDR
The survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria to determine the long-term neurological and ophthalmological outcome of cblC patients.
Congenital glutamine deficiency with glutamine synthetase mutations.
TLDR
Two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death and studies that used immortalized lymphocytes expressing R324C glutaminesynthetase and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine Synthetase activity.
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
TLDR
This update presents a survey of the correlation between mutations in the ASS1 gene and the respective clinical courses as described so far and sheds light on the geographic incidence of the mutations.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
TLDR
For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be moresevere in MMA and PA patients with late onset of symptoms.
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice
TLDR
AAV-mediated base editing corrects an autosomal recessive mutation in the Pahenu2 gene and ameliorates molecular deficits in a mouse model of metabolic liver disease and suggests that targeting genetic diseases in vivo using AAV-mediated delivery of base-editing agents is feasible.
Studying patients with inflammatory back pain and arthritis of the lower limbs clinically and by magnetic resonance imaging: many, but not all patients with sacroiliitis have spondyloarthropathy.
TLDR
HLA B27 positivity in IBP patients with MRI-proven sacroiliitis positively predicts SpA, and uSpA is a frequent SpA subset.
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
De Barsy Syndrome: A Genetically Heterogeneous Autosomal Recessive Cutis Laxa SyndromeRelated to P5CS and PYCR1 Dysfunction Stefania Zampatti, Marco Castori, Bjoern Fischer, Paola Ferrari, Livia
...
...