Results 211 to 220 of about 30,878 (268)

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases. [PDF]

Biomedicines
Spargo TP, Iacoangeli A, Ryten M, Forzano F, Pearce N, Al-Chalabi A.   +5 more
europepmc   +1 more source

Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan. [PDF]

Kobe J Med Sci
Hong S, Iketani K, Sonehara S, Hanafusa H, Nambu Y, Nozu K, Awano H, Bo R.   +7 more
europepmc   +1 more source

Assessing sleep habits in school-aged children with phenylketonuria: a comparative study. [PDF]

Eur J Pediatr
Mete Yeşil A, Akar HT, Yıldız Y, Sivri S, Özmert EN.   +4 more
europepmc   +1 more source

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Effect of enzyme substitution therapy on brain magnetic resonance imaging and cognition in adults with phenylketonuria: A case series of three patients. [PDF]

Eur J Neurol
Burlina AP, Manara R, Carretta J, Cazzorla C, Loro C, Gragnaniello V, Burlina AB.   +6 more
europepmc   +1 more source

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +1 more source

A Cross-Sectional Study on Protein Substitutes for Paediatric Phenylketonuria Diet: Time to Pay Attention. [PDF]

Nutrients
Tummolo A, Carella R, De Giovanni D, Di Tullio V, Lorusso L, Bartolomeo N.   +5 more
europepmc   +1 more source

A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria. [PDF]

Patient Prefer Adherence
Zheng YJ, Hou YC, Zhao H, Wang XY, Liu YD, Li L, Yu L, Guo MM.   +7 more
europepmc   +1 more source