Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
International Society for Pediatric and Adolescent Diabetes
International Society for Pediatric and Adolescent Diabetes 24th Annual Meeting, Zurich, Switzerland, September 14–17, 1998 Horm Res 1998;50:107–140 Abstracts Dr. Michael S. Harbuz Division of…
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
This consensus guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease.
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population.
- R. Gassió, R. Artuch, J. Campistol
- Medicine, PsychologyDevelopmental Medicine & Child Neurology
- 1 July 2005
It was concluded that individuals with PKU under dietary treatment may present slightly decreased cognitive function scores when compared with control individuals, while those with HPA have scores mostly similar to those of controls, except for executive function tests.
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.
A longitudinal study of antioxidant status in phenylketonuric patients.
Total homocysteine in pediatric patients.
The goal was to establish reference values for a pediatric population in the geographical area with working conditions so that they could compare the values in further studies with those of children at risk for moderate hyperhomocysteinemia.
School performance in early and continuously treated phenylketonuria.
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins
Friedreich's ataxia: idebenone treatment in early stage patients.
Idebenone treatment at early stages of the disease seems to reduce the progression of cerebellar manifestations and further blind trials with a greater number of patients and higher doses are needed to fully assess the therapeutic potential of idebenone in Friedreich's ataxia.