Results 121 to 130 of about 2,156 (206)

Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review. [PDF]

Nutrients
Evans S, Ilgaz F, MacDonald A.
europepmc   +1 more source

New drugs: Sapropterin dihydrochloride

Australian Prescriber, 2011
openaire   +1 more source

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source

PAH genotypes and their impact on sapropterin responsiveness in Thai patients with phenylalanine hydroxylase deficiency

Italian Journal of Pediatrics
Dhachdanai Dhachpramuk, N. Densupsoontorn, Napat Sittanomai, Khunton Wichajarn, Thipwimol Tim-Aroon, D. Wattanasirichaigoon, L. Ngiwsara, S. Liammongkolkul, H. Rukprayoon, S. Sirisakpanit, Souwaluck Ratanamalaya, N. Vatanavicharn   +11 more
semanticscholar   +1 more source

P025: Impact of health-system specialty pharmacy utilization on sapropterin adherence in patients with phenylketonuria (PKU)

Genetics in Medicine Open
Mary Riedy, D. Rossetti, P. Duraisamy, Jessica T. Kozakiewicz, N. Acquisto, Calvin Meaney   +5 more
semanticscholar   +1 more source

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study. [PDF]

Orphanet J Rare Dis
Bahtiri L, Jørgensen C, Ahring K, Rasmussen H, Hermansen JM, Fjellbirkeland OW, Lund AM, Ørngreen MC.   +7 more
europepmc   +1 more source

A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]

Mol Syndromol
Peker A, Uzuner SY, Clark ÖA, Demirelli GD, Paksoy BA, Soyuçen E, Mıhçı E.   +6 more
europepmc   +1 more source

Phenylalanine homeostasis in metabolic disorders: epidemiological trends, pathophysiological mechanisms, and clinical treatment. [PDF]

Front Endocrinol (Lausanne)
Chen Y, Lu S, Li C, Li Y, Qin C, He Y, Niu Y, Sun Q.   +7 more
europepmc   +1 more source

Blood Phenylalanine Control in Paediatric and Adult Centres in the UK: Data from 2012-2018. [PDF]

Nutrients
Pinto A, Ashmore C, Ash J, Cochrane B, Cole D, Bailey S, Dale C, Daly A, Dawson C, Evans S, Firman S, Ford S, Grimsley A, Green D, Geberhiwot T, Howe S, Hunjan I, Ilgaz F, Jackson R, McStravick N, Newby C, Oxley N, Ramachandran R, Rawlins K, Robertson L, Schulenburg-Brand D, Shah K, Lemonde H, Skeath R, Terry A, Wilcox G, Woodall A, Van Wyk K, Rocha JC, MacDonald A.   +34 more
europepmc   +1 more source

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source