| Title |
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
|
|---|---|
| Published in |
Genetics in Medicine, August 2017
|
| DOI | 10.1038/gim.2017.101 |
| Pubmed ID | |
| Authors |
Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley, C Ronald Scott |
| Abstract |
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) exists but requires early identification of affected children for optimal long-term results. Newborn screening (NBS) utilizing blood succinylacetone as the NBS marker is superior to observing tyrosine levels as a way of identifying neonates with HT-1. If identified early and treated appropriately, the majority of affected infants can remain asymptomatic. A clinical management scheme is needed for infants with HT-1 identified by NBS or clinical symptoms. To this end, a group of 11 clinical practitioners, including eight biochemical genetics physicians, two metabolic dietitian nutritionists, and a clinical psychologist, from the United States and Canada, with experience in providing care for patients with HT-1, initiated an evidence- and consensus-based process to establish uniform recommendations for identification and treatment of HT-1. Recommendations were developed from a literature review, practitioner management survey, and nominal group process involving two face-to-face meetings. There was strong consensus in favor of NBS for HT-1, using blood succinylacetone as a marker, followed by diagnostic confirmation and early treatment with NTBC and diet. Consensus recommendations for both immediate and long-term clinical follow-up of positive diagnoses via both newborn screening and clinical symptomatic presentation are provided.Genetics in Medicine advance online publication, 3 August 2017; doi:10.1038/gim.2017.101. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 245 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 245 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 25 | 10% |
| Student > Bachelor | 25 | 10% |
| Researcher | 21 | 9% |
| Student > Ph. D. Student | 18 | 7% |
| Other | 17 | 7% |
| Other | 36 | 15% |
| Unknown | 103 | 42% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 48 | 20% |
| Biochemistry, Genetics and Molecular Biology | 32 | 13% |
| Pharmacology, Toxicology and Pharmaceutical Science | 10 | 4% |
| Nursing and Health Professions | 9 | 4% |
| Agricultural and Biological Sciences | 6 | 2% |
| Other | 25 | 10% |
| Unknown | 115 | 47% |
Attention Score in Context
This research output has an Altmetric Attention Score of 21. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 June 2022.
All research outputs
#1,773,909
of 26,017,215 outputs
Outputs from Genetics in Medicine
#594
of 2,970 outputs
Outputs of similar age
#33,699
of 331,165 outputs
Outputs of similar age from Genetics in Medicine
#20
of 56 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,970 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.1. This one has done well, scoring higher than 79% of its peers.
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We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.