ABSTRACT β-ketothiolase (3-oxothiolase, BKT), also called mitochondrial acetoacetyl-
coenzyme-A thiolase (T2), is a mitochondrial enzyme involved in isoleucine catabolism and …

Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been
described as a cause of an autosomal recessive syndrome characterized by episodes of …

DISCUSSION In premature infants, adaptation of the bowel (including intestinal dilation and
lengthening, growth of the villi, alterations of motility, and hormonal changes) is a important …

Discussion This patient was previously identified as an HDR family proband [1]. Bilous et al.
first reported HDR syndrome as an autosomal dominant clinical entity (MIM 146255) in a …

Background Transaldolase deficiency (OMIM 606003) is a multisystem disorder first
described in 2001. Transaldolase is an enzyme of the reversible part of the pentose …

Glutaric aciduria type II (GA II) also known as multiple acyl-CoA dehydrogenase deficiency is
an inborn metabolic disorder belonging to the family of organic acidurias. It is a disorder that …

Barakat syndrome, also known as HDR syndrome (hypoparathyroidism, deafness and renal
dysplasia), is a rare autosomal dominant disorder, secondary to mutation of the GATA3 gene …

Interventions: Immediately after diagnosis, patients were treated with oral
chenodeoxycholate 5 mg/kg/d. Outcomes: The patients' symptoms, signs, and primary bile …

A 13-year-old girl with a 9-year history of type 1 diabetes with chronic hyperglycaemia
[haemoglobin A1c 69 mmol/mol (8.5%)–90 mmol/mol (10.4%)] presented in diabetic …

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited
metabolic disorder caused by biallelic pathogenic variants in genes related to the …