Results 91 to 100 of about 5,194 (193)
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista +3 more
wiley +1 more source
JIMD Reports, 2020 Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both
Hilde Laeremans +9 more
doaj +1 more source
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
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Trial Readiness: Understanding the Natural History of Rare Diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen +6 more
wiley +1 more source
Cell Proliferation, Volume 58, Issue 11, November 2025.CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far +4 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2017 Background Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved.
Julia Geppert +7 more
doaj +1 more source
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2015 Aim of investigation. To carry out objective estimation of liver parenchyma state in children with the 1-st type hereditary tyrosinemia (НТ-1) by ultrasound method with quantitative estimation of hepatic parenchyma pattern.Material and methods.
G. M. Dvoryakovskaya +3 more
doaj
, 1979 Human liver transplantation, which was first performed in man in Denver 15 years ago, has finally come of age in the past 2 years. The 1 year survival has improved from 28 per cent to 50 per cent in the recent Denver Second Series.
Koep, LJ, Starzl, TE, Terblanche, J
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Tyrosinemia type 1: a case report
Бюллетень медицинских интернет-конференций, 2015 We report a case of a 2-month-old girl with tyrosinemia type 1 presented with dyspnea, fever, diarrea and hepatosplenomegalia.
Doronina A. +3 more
openaire +1 more source