Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review [PDF]
, 2021 Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Barhoumi, Abir +3 more
core +1 more source
Serum proteomic profiling in patients with drug‐induced liver injury [PDF]
, 2012 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90324/1/apt4982 ...
Abboud +42 more
core +3 more sources
Current Clinical Applications of Testicular Cancer Biomarkers [PDF]
, 2016 Current use of testicular biomarkers for screening, diagnosis, and follow-up is reviewed in the context of potential clinical utility of these tests. This information will be of value to clinicians to determine patient suitability for certain treatments ...
Gonzalgo, M. L., Mir, M. C., Pavan, N.
core +1 more source
Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]
, 2019 It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad +1 more
core +2 more sources
The mechanism of palmatine-mediated intestinal flora and host metabolism intervention in OA-OP comorbidity rats [PDF]
, 2023 BackgroundErXian decoction is a Chinese herbal compound that can prevent and control the course of osteoarthritis (OA) and osteoporosis (OP). OP and OA are two age-related diseases that often coexist in elderly individuals, and both are associated with ...
Jun Mao +11 more
core +1 more source
Development of Risk Prediction Equations for Incident Chronic Kidney Disease [PDF]
, 2019 IMPORTANCE Early identification of individuals at elevated risk of developing chronic kidney disease (CKD) could improve clinical care through enhanced surveillance and better management of underlying health conditions.OBJECTIVE To develop assessment ...
+29 more
core +1 more source
Animal Models of Tyrosinemia [PDF]
The Journal of Nutrition, 2007 Hereditary tyrosinemia I (HT I) is a genetic disorder of tyrosine metabolism characterized by progressive liver damage from infancy and by a high risk for hepatocellular carcinoma. HT I is due to mutations in the fumarylacetoacetate hydrolase (Fah) gene, which encodes the last enzyme in the tyrosine catabolic pathway.
Kimitoshi, Nakamura +3 more
openaire +2 more sources
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients [PDF]
, 2019 Tyrosinemia type 1 (TT1) treatment with 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) and a phenylalanine-tyrosine restricted diet is associated with low phenylalanine concentrations.
Burgerhof, Johannes G M +11 more
core +1 more source
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy [PDF]
, 2019 Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria
Aisha Zaylaa +8 more
core +1 more source
Proceedings of the Japan Academy, Series B, 2012 In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). 4-Hydroxyphenylpyruvate dioxygenase deficiency was originally proposed as the
openaire +3 more sources