Results 131 to 140 of about 499,338 (183)

Maternal Dietary B-Complex Vitamin Pattern and Risk of Complex Congenital Heart Defects in a Mexican Population. [PDF]

open access: yesNutrients
Vilchis-Gil J   +8 more
europepmc   +1 more source

Phenylketonuria

open access: yes, 1981
Illinois
core  

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype. [PDF]

open access: yesMol Genet Metab Rep
Demirbas D   +6 more
europepmc   +1 more source

Experimental Animal Models of Phenylketonuria: Pros and Cons. [PDF]

open access: yesInt J Mol Sci
Bobrova NA   +7 more
europepmc   +1 more source

Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions. [PDF]

open access: yesInt J Neonatal Screen
Monostori P   +23 more
europepmc   +1 more source

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders. [PDF]

open access: yesMetabolomics
Veldman A   +9 more
europepmc   +1 more source

MATERNAL PHENYLKETONURIA

Lancet, The, 1979
Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy.
Neilr M Buist
exaly   +6 more sources

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