4.4 Article

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Endocrinology & Metabolism

Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

Ute Spiekerkoetter et al.

Summary: This study found that long-term nitisinone treatment is well tolerated with no new safety signals. Early treatment may prevent life-limiting hepatic disease. Neonatal screening is the most effective way to ensure early treatment.

LANCET DIABETES & ENDOCRINOLOGY (2021)

Article Genetics & Heredity

Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis

Helene Barone et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2020)

Review Clinical Neurology

Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches

Marie Canton et al.

JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY (2019)

Article Psychology, Clinical

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Rianne Jahja et al.

NEUROPSYCHOLOGY (2017)

Review Endocrinology & Metabolism

Key European guidelines for the diagnosis and management of patients with phenylketonuria

Francjan J. van Spronsen et al.

LANCET DIABETES & ENDOCRINOLOGY (2017)

Article Genetics & Heredity

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

Maria Ignacia Garcia et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2017)

Article Endocrinology & Metabolism

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Rianne Jahja et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2016)

Article Genetics & Heredity

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Jerry Vockley et al.

GENETICS IN MEDICINE (2014)

Review Genetics & Heredity

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Rani H. Singh et al.

GENETICS IN MEDICINE (2014)

Review Genetics & Heredity

Recommendations for the management of tyrosinaemia type 1

Corinne de Laet et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Nutrition & Dietetics

Diurnal variation of phenylalanine concentrations in tyrosinaemia type 1: should we be concerned?

A. Daly et al.

JOURNAL OF HUMAN NUTRITION AND DIETETICS (2012)

Article Endocrinology & Metabolism

Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC

Eva Thimm et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

Article Endocrinology & Metabolism

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec

Jean Larochelle et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Letter Clinical Neurology

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

Corinne De Laet et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Review Behavioral Sciences

Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis

Julia Albrecht et al.

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2009)

Article Endocrinology & Metabolism

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

A. Masurel-Paulet et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Endocrinology & Metabolism

Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis

Susan E. Waisbren et al.

MOLECULAR GENETICS AND METABOLISM (2007)

Article Genetics & Heredity

The genetic tyrosinemias

CR Scott

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2006)

Article Endocrinology & Metabolism

Executive function impairment in early-treated PKU subjects with normal mental development

V Leuzzi et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2004)

Article Ophthalmology

Tyrosinemia type II: Nine cases of ocular signs and symptoms

MS Macsai et al.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2001)