Results 151 to 160 of about 25,962 (237)

Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria. [PDF]

Metabolomics
Vézirian S, Cunin V, Dias C, Le Gouellec A, Faure P, Toussaint B, Corne C, Plazy C.   +7 more
europepmc   +1 more source

Concurrent phenylketonuria and immune-mediated central nervous system involvement: a case report highlighting rare co-occurrence. [PDF]

BMC Neurol
Zhao J, Yan H, Li Z, Wang X, Wang Y, Zhang X.   +5 more
europepmc   +1 more source

Nutritional Practices and Knowledge of Patients with Phenylketonuria. [PDF]

Nutrients
Kaloteraki E, Pardali EC, Poulimeneas D, Mylona V, Fotiadou E, Papa K, Gioxari A, Spilioti M, Bogdanos DP, Grammatikopoulou MG.   +9 more
europepmc   +1 more source

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts [PDF]

, 2011
Aleš Hnízda, Vojtěch Jurga, Kateřina Raková, Viktor Kožich   +3 more
core   +1 more source

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source

Mutationen im PTS-Gen und mögliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase [PDF]

, 2002
Preuße, Friedrich-Alexander, Prof. Dr. O. Bandmann   +1 more
core   +1 more source

The status of newborn screening in Africa: Situation analysis, future plans and call to action. [PDF]

Afr J Lab Med
Satekge T, Okesina A, Anetor J, Erasmus R.   +3 more
europepmc   +1 more source

Phenylketonuria - genetic, clinical and therapeutic aspects [PDF]

, 2012
A Murariu, E Petrescu, O Murariu, R Magopet, SO Salceanu   +4 more
core   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children. [PDF]

Sci Rep
Yahia S, El-Gilany AH, Magdy RM, Bebars GM, Fadle YS, Dawoud H, ELfeil NS, Moussa MM, Assy R, Sadek AA, Abdelmoneim Z.   +10 more
europepmc   +1 more source