Tyrosinemia Type 1
What's New
Last Posted: Mar 24, 2022
- Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Lobitz Stephan et al. Annals of hematology 2022 - Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.
Szypowska Agnieszka et al. Pediatric endocrinology, diabetes, and metabolism 2018 2018(3) 118-125 - Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Landau Yuval E et al. Journal of inherited metabolic disease 2017 Mar 40(2) 209-218 - Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Giguère Yves et al. Advances in experimental medicine and biology 2017 959139-146 - NTBC and Correction of Renal Dysfunction.
Maiorana Arianna et al. Advances in experimental medicine and biology 2017 95993-100 - Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky Jeffrey M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Aug - Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.
Tardif Jessica et al. Prenatal diagnosis 2017 Apr - Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48 - Tyrosinemia type 1
From NCATS Genetic and Rare Diseases Information Center - Tyrosinemia type 2
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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