[HTML][HTML] Clinical and molecular characteristics of two transaldolase-deficient patients
A Tylki-Szymanska, MMC Wamelink… - European journal of …, 2014 - Springer
Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate
pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of …
pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of …
A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.
M Yildiz, Z Onal, G Yesil, TG Kabil… - Journal of Clinical …, 2023 - europepmc.org
Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic
mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction …
mutations in the TALDO1 gene. It is characterized by intrauterine growth restriction …
Novel association of early onset hepatocellular carcinoma with transaldolase deficiency
We evaluated a family with a 16-month-old boy with cirrhosis and hepatocellular carcinoma
and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine …
and his 30-month-old brother with cirrhosis. After failing to identify a diagnosis after routine …
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease
V Valayannopoulos, NM Verhoeven, K Mention… - The Journal of …, 2006 - Elsevier
Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has
been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new …
been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new …
Transaldolase haploinsufficiency in subjects with acetaminophen‐induced liver failure
Transaldolase (TAL) is an enzyme in the pentose phosphate pathway (PPP) that generates
NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such …
NADPH for protection against oxidative stress. While deficiency of other PPP enzymes, such …
[HTML][HTML] Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency
UFH Engelke, FSM Zijlstra, F Mochel… - … et Biophysica Acta (BBA …, 2010 - Elsevier
BACKGROUND: Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key
diagnostic metabolites in TALDO deficiency. METHOD: Urine from 6 TALDO-deficient …
diagnostic metabolites in TALDO deficiency. METHOD: Urine from 6 TALDO-deficient …
Transaldolase deficiency in two new patients with a relative mild phenotype
A Tylki-Szymańska, TJ Stradomska… - Molecular genetics and …, 2009 - Elsevier
Transaldolase (TALDO) deficiency is a recently described inborn error of metabolism of the
pentose phosphate pathway that so far has been diagnosed in only eight patients. In this …
pentose phosphate pathway that so far has been diagnosed in only eight patients. In this …
[HTML][HTML] Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a …
XM Zhen, SM Twigg, T Wu, E Tabet, MJ McGill… - Clinical Diabetes and …, 2024 - Springer
Background Diabetes presenting in young adults is often challenging to classify. Diabetic
ketoacidosis is typically seen in autoimmune type 1 diabetes mellitus and more rarely in …
ketoacidosis is typically seen in autoimmune type 1 diabetes mellitus and more rarely in …