We describe an improved diagnostic method for tyrosinemia type 1 based on quantifying
succinylacetone in dried blood spots by ultra‐performance liquid chromatography tandem …

Succinylacetone (SA) is a specific marker for the inherited metabolic disease, hepatorenal
tyrosinemia. We developed a stable-isotope dilution liquid chromatography tandem mass …

We describe an isotope dilution liquid chromatography–tandem mass spectrometry (LC–MS/MS)
method for the determination of succinylacetone (SA) in urine for the diagnosis of …

We define the neurological characteristics of familial cases from multiple branches of a large
consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium …

N‐acetylaspartic acid (NAA) is a specific urinary marker for Canavan disease, an autosomal
recessive leukodystrophy. We developed a ‘dilute and shoot’ stable isotope dilution liquid …

Orotic acid (ORA) is an important biochemical marker for uridine monophosphate synthase
deficiency, an autosomal recessive disease characterized by macrocytic hypochromic …

Objective To define phenotypic groups and identify predictors of disease severity in patients
with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 …

Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive
disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to …

Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis,
from four consanguineous families three of which are related. Detailed genetic studies …

Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a
deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (…