Results 221 to 230 of about 30,878 (268)

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU [PDF]

, 2018
Blau, Nenad
core  

49th Annual Meeting of the Indian Society of Human Genetics and International Conclave on Neurogenetics (ISHG-2025): India's march towards low-cost rare disease therapeutics. [PDF]

Lancet Reg Health Southeast Asia
Jothi M, Thelma BK, Debnath M.
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Development of an SI traceable value assigned amino acid matrix-matched material to underpin European external quality assessment. [PDF]

Anal Bioanal Chem
Whyte E, Carling R, Cowen S, Sears P, Hopley C.   +4 more
europepmc   +1 more source

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product. [PDF]

J Inherit Metab Dis
Turki A, Stockler-Ipsiroglu S, Sirrs S, Branov J, Bosdet T, Elango R.   +5 more
europepmc   +1 more source

Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency. [PDF]

Front Endocrinol (Lausanne)
Hanusch B, Schlegtendal A, Grasemann C, Lücke T, Sinningen K.   +4 more
europepmc   +1 more source