Tyrosinosis: a patient without liver or renal disease

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

JIMD reports·2015

A psychosocial model of a medical problem: Maternal phenylketonuria.

The journal of primary prevention·2013

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

JIMD reports·2013

Glycogen synthase kinase-3β (GSK-3β) and its dysregulation in glioblastoma multiforme.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia·2013

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Journal of human genetics·2009

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Molecular genetics and metabolism·2008

Pediatrician Burnout Over Time: 2021-2025.

Pediatrics·2026

A Framework for Decisions for Parents Along the Early Hearing Detection and Intervention Journey.

Pediatrics·2026

Decision Analysis to Inform Screening of the Young: An Interactive Newborn Screening Model.

Pediatrics·2026

Long-Term Follow-Up for Newborn Screening: A Roadmap and Guide With Programmatic Considerations.

Pediatrics·2026

Early Check: The First 5 Years.

Pediatrics·2026

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Pediatrics·2026

Perianal Human Tail with Lower Imperforate Anus: A Case Report.

African journal of paediatric surgery : AJPS·2026

The cost of an expanding moral circle: After living abroad, outcasts matter more but loved ones matter less.

Journal of personality and social psychology·2026

National Estimates of Human Flourishing and Associated Acts of Charity.

JMIR formative research·2026

Social withdrawal among university students in the UK: the emerging hikikomori phenomena.

The British journal of psychiatry : the journal of mental science·2026

Initial psychometric properties of the national entitlement scale and its association with social dominance orientation and psychological sense of global community.

BMC psychology·2026

Non-participants in colorectal cancer screening in Germany: reachability through the healthcare system.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)·2026

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Tyrosinosis: a patient without liver or renal disease

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Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics.

A psychosocial model of a medical problem: Maternal phenylketonuria.

Newborn Screening for Glutaric Aciduria-II: The New England Experience.

Glycogen synthase kinase-3β (GSK-3β) and its dysregulation in glioblastoma multiforme.

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Pediatrician Burnout Over Time: 2021-2025.

A Framework for Decisions for Parents Along the Early Hearing Detection and Intervention Journey.

Decision Analysis to Inform Screening of the Young: An Interactive Newborn Screening Model.

Long-Term Follow-Up for Newborn Screening: A Roadmap and Guide With Programmatic Considerations.

Early Check: The First 5 Years.

Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Perianal Human Tail with Lower Imperforate Anus: A Case Report.

The cost of an expanding moral circle: After living abroad, outcasts matter more but loved ones matter less.

National Estimates of Human Flourishing and Associated Acts of Charity.

Social withdrawal among university students in the UK: the emerging hikikomori phenomena.

Initial psychometric properties of the national entitlement scale and its association with social dominance orientation and psychological sense of global community.

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