Results 131 to 140 of about 25,909 (224)

Maternal Phenylketonuria [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1998
H, Wilkinson, I B, Holbrook
openaire   +2 more sources

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes

Advanced Science
Phenylketonuria (PKU) is the most common inherited metabolic disease in humans. Clinical screening of newborn heel blood samples for PKU is costly and time‐consuming because it requires multiple procedures, like isotope labeling and derivatization, and ...
Haiyang Su, Huiwen Zhang, Jiao Wu, Lin Huang, Mengji Zhang, Wei Xu, Jing Cao, Wanshan Liu, Ning Liu, Hongwei Jiang, Xuefan Gu, Kun Qian   +11 more
doaj   +1 more source

Heredity and Hope: The Case for Genetic Screening. [PDF]

, 2010
Haddow, Gill
core   +1 more source

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial. [PDF]

J Comp Eff Res
Muntau AC, Gallagher S, Lah M, Belanger-Quintana A, Longo N.   +4 more
europepmc   +1 more source

Pediatric phenylketonuria and the eye: Unveiling subclinical anterior segment changes. [PDF]

Indian J Ophthalmol
Seyyar SA, Soysal GG, Hopurcuoğlu D.
europepmc   +1 more source

Phenylketonuria. [PDF]

BMJ, 1970
B E, Clayton, O H, Wolff
openaire   +2 more sources

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

Docosahexaenoic acid supplementation in phenylketonuria: a systematic review. [PDF]

Front Nutr
Alanís-Bernal M, Boada-Oller L, Sojitra M.   +2 more
europepmc   +1 more source

Nutritional knowledge of the phenylketonuria diet among healthcare providers in Saudi Arabia. [PDF]

Saudi Med J
Alghamdi NA, Naaman RK.
europepmc   +1 more source