Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

(2017) Chris Stinton et al.   Orphanet Journal of Rare Diseases

Is There a Consensus on Consensus Methodology? Descriptions and Recommendations for Future Consensus Research

(2016) Jane Waggoner et al.   ACADEMIC MEDICINE

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

(2016) Patrick R. Blackburn et al.   HUMAN MUTATION

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency

(2016) Hao Yang et al.   JOURNAL OF MEDICAL GENETICS

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

(2016) Neslihan Önenli Mungan et al.   METABOLIC BRAIN DISEASE

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

(2016) Willem G. van Ginkel et al.   Orphanet Journal of Rare Diseases

Pregnancy in an NTBC-Treated Patient With Hereditary Tyrosinemia Type I

(2015) Rachel Kassel et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Hepatocellular Carcinoma in Tyrosinemia Type 1 Without Clear Increase of AFP

(2015) W. G. van Ginkel et al.   PEDIATRICS

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

(2014) Rani H. Singh et al.   GENETICS IN MEDICINE

Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function

(2014) David C. Bartlett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Evaluating the Strength of Clinical Recommendations in the Medical Literature: GRADE, SORT, and AGREE

(2014) Mayra Buainain de Castro Maymone et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1

(2014) A. Maiorana et al.   MOLECULAR GENETICS AND METABOLISM

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs

(2014) Víctor R. De Jesús et al.   MOLECULAR GENETICS AND METABOLISM

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

(2014) Sebene Mayorandan et al.   Orphanet Journal of Rare Diseases

HCC prevalence and histopathological findings in liver explants of patients with hereditary tyrosinemia type 1

(2014) Joao Seda Neto et al.   PEDIATRIC BLOOD & CANCER

Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

(2014) A Cigdem Aktuglu Zeybek et al.   PEDIATRICS INTERNATIONAL

Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone

(2013) Fatiha Bendadi et al.   JOURNAL OF PEDIATRICS

Development of clinical guidelines for inborn errors of metabolism: Commentary

(2013) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations for the management of tyrosinaemia type 1

(2013) Corinne de Laet et al.   Orphanet Journal of Rare Diseases

Confocal Microscopy of Corneal Crystals in a Patient With Hereditary Tyrosinemia Type I, Treated With NTBC

(2012) Pieter-Paul Schauwvlieghe et al.   CORNEA

Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

(2012) David C. Bartlett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Single dose NTBC-treatment of hereditary tyrosinemia type I

(2012) A. Schlune et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2012) Jean Larochelle et al.   MOLECULAR GENETICS AND METABOLISM

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1

(2011) Corinne De Laet et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An Infant With Prolonged Circumcision Bleeding and Unexplained Coagulopathy

(2011) Ali Bay et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

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

(2011) A. Daly et al.   JOURNAL OF HUMAN NUTRITION AND DIETETICS

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

(2011) Manuel Schiff et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver transplantation for hereditary tyrosinemia type I: Analysis of the UNOS database

(2011) Ronen Arnon et al.   PEDIATRIC TRANSPLANTATION

AGREE II: advancing guideline development, reporting and evaluation in health care

(2010) M. C. Brouwers et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

(2010) Eva Thimm et al.   MOLECULAR GENETICS AND METABOLISM

Clinical practice

(2009) Hanaa El-Karaksy et al.   EUROPEAN JOURNAL OF PEDIATRICS

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

(2008) C. Turgeon et al.   CLINICAL CHEMISTRY

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1

(2008) Saikat Santra et al.   EXPERT OPINION ON PHARMACOTHERAPY

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

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

(2008) A. Masurel-Paulet et al.   JOURNAL OF INHERITED METABOLIC DISEASE