Le dépistage de la phénylcétonurie en France

La phénylcétonurie

(2020) Arnaud Wiedemann et al.   M S-MEDECINE SCIENCES

Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

(2019) K. F. Trefz et al.   Orphanet Journal of Rare Diseases

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

(2019) Killian Ashe et al.   Frontiers in Psychiatry

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

(2018) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

(2018) Ania C. Muntau et al.   Orphanet Journal of Rare Diseases

The complete European guidelines on phenylketonuria: diagnosis and treatment

(2017) A. M. J. van Wegberg et al.   Orphanet Journal of Rare Diseases

Key European guidelines for the diagnosis and management of patients with phenylketonuria

(2017) Francjan J van Spronsen et al.   Lancet Diabetes & Endocrinology

Adult phenylketonuria presenting with subacute severe neurologic symptoms

(2015) M. Seki et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

(2015) Elise Jeannesson-Thivisol et al.   Orphanet Journal of Rare Diseases

Phenylketonuria Scientific Review Conference: State of the science and future research needs

(2014) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia

(2010) L. Shakespeare et al.   ANNALS OF CLINICAL BIOCHEMISTRY