Found: 36
Select item for more details and to access through your institution.
Comments on final intelligence in late treated patients with phenylketonuria.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 14, p. S149, doi. 10.1007/PL00014380
- By:
- Publication type:
- Article
Expanded Screening of Newborns for Genetic Disorders.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress.
- Published in:
- JAMA: Journal of the American Medical Association, 2003, v. 290, n. 19, p. 2564, doi. 10.1001/jama.290.19.2564
- By:
- Publication type:
- Article
Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Genetics and society.
- Published in:
- Nature, 1978, v. 272, n. 5656, p. 766, doi. 10.1038/272766a0
- By:
- Publication type:
- Article
Confounding factors in identification of disease-resilient individuals.
- Published in:
- Nature Biotechnology, 2016, v. 34, n. 11, p. 1103, doi. 10.1038/nbt.3684
- By:
- Publication type:
- Article
FETAL ULTRASONOGRAPHY IN MATERNAL PKU.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 7, p. 599, doi. 10.1002/(SICI)1097-0223(199607)16:7<599::AID-PD915>3.0.CO;2-5
- By:
- Publication type:
- Article
Lessons from the past--looking to the future. Newborn screening.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Newborn Screening.
- Published in:
- Pediatric Annals, 2003, v. 32, n. 8, p. 505, doi. 10.3928/0090-4481-20030801-07
- By:
- Publication type:
- Article
Phenylalanine Tolerance Tests in Simian Primates.
- Published in:
- Proceedings of the Society for Experimental Biology & Medicine, 1971, v. 136, n. 4, p. 1087, doi. 10.3181/00379727-136-35433
- By:
- Publication type:
- Article
Pitfalls in Diagnosing Galactosemia.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1990, v. 10, n. 2, p. 272
- By:
- Publication type:
- Article
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 312, doi. 10.1002/jmd2.12384
- By:
- Publication type:
- Article
Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018
- By:
- Publication type:
- Article
Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.
- Published in:
- Journal of Nutrition & Metabolism, 2017, p. 1, doi. 10.1155/2017/6859820
- By:
- Publication type:
- Article
The BabySeq project: implementing genomic sequencing in newborns.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
- Published in:
- BMC Genetics, 2001, v. 2, p. 9, doi. 10.1186/1471-2156-2-9
- By:
- Publication type:
- Article
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 5, p. 433, doi. 10.1093/clinchem/hvad027
- By:
- Publication type:
- Article
Pancreatic involvement in patients with inborn errors of metabolism.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia<sup>1</sup>.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 111, n. 5, p. 791, doi. 10.1046/j.1523-1747.1998.00391.x
- By:
- Publication type:
- Article
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023).
- Published in:
- 2023
- By:
- Publication type:
- Obituary
Maternal PKU: Control of an Emerging Problem.
- Published in:
- American Journal of Public Health, 1982, v. 72, n. 12, p. 1320, doi. 10.2105/AJPH.72.12.1320
- By:
- Publication type:
- Article
Brief Report: Predictors of Parenting Stress Among Parents of Children With Biochemical Genetic Disorders.
- Published in:
- Journal of Pediatric Psychology, 2004, v. 29, n. 7, p. 565, doi. 10.1093/jpepsy/jsh058
- By:
- Publication type:
- Article
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
- Published in:
- Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041
- By:
- Publication type:
- Article
Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 12, doi. 10.3390/ijns10010012
- By:
- Publication type:
- Article
Early Development of Newborn Screening for HCU and Current Challenges.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 67, doi. 10.3390/ijns7040067
- By:
- Publication type:
- Article
Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 10, p. 826, doi. 10.1177/08830738050200100901
- By:
- Publication type:
- Article
Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 7, p. 464
- By:
- Publication type:
- Article
Psychosocial Factors in Maternal Phenylketonuria: Women's Adherence to Medical Recommendations.
- Published in:
- American Journal of Public Health, 1995, v. 85, n. 12, p. 1636, doi. 10.2105/AJPH.85.12.1636
- By:
- Publication type:
- Article
Psychosocial Factors in Maternal Phenylketonuria: Prevention of Unplanned Pregnancies.
- Published in:
- American Journal of Public Health, 1991, v. 81, n. 3, p. 299, doi. 10.2105/AJPH.81.3.299
- By:
- Publication type:
- Article
The New England Maternal PKU Project: Identification of At-Risk Women.
- Published in:
- American Journal of Public Health, 1988, v. 78, n. 7, p. 789
- By:
- Publication type:
- Article
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply.
- Published in:
- Annals of Neurology, 1987, v. 22, n. 1, p. 96, doi. 10.1002/ana.410220126
- By:
- Publication type:
- Article
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.
- Published in:
- 1986
- By:
- Publication type:
- journal article
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
- Published in:
- Human Mutation, 2001, v. 17, n. 1, p. 77, doi. 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H
- By:
- Publication type:
- Article
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C
- By:
- Publication type:
- Article
Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.
- Published in:
- Clinical Genetics, 1975, v. 7, n. 5, p. 421, doi. 10.1111/j.1399-0004.1975.tb00352.x
- By:
- Publication type:
- Article