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Article
Genetic screening in Iranian patients with retinoblastoma
The most common intraocular tumor in childhood, retinoblastoma, is largely associated with mutations in the RB1 gene. In the most comprehensive RB1 screening in Iran, we evaluated the RB1 mutations in 106 patient...
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Article
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
Attention-Deficit/Hyperactivity Disorder (ADHD) has a very high heritability (0.8), suggesting that about 80% of phenotypic variance is due to genetic factors. We used the integration of statistical and functi...
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Article
Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model
Canavan disease (CD) is a fatal dysmyelinating genetic disorder associated with aspartoacylase deficiency, resulting in decreased brain acetate levels and reduced myelin lipid synthesis in the develo** brain...
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Article
Chemical individuality: Concept and outlook
Sir Archibald Garrod's concept of chemical individuality introduced a century ago provided the basis for the entire discipline of inborn errors of metabolism. Human disorders are defined by variation in diseas...
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Article
Clinical course and biochemistry of sialuria
Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N-acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epi...
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Article
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
The HPS-1 gene is the first gene found to be responsible for the autosomal recessive disorder Hermansky-Pudlak syndrome (HPS). HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency,...
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Article
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum
Glycine is a nonessential amino acid that serves as both an inhibitory and an excitatory neurotransmitter. Hyperglycinaemia occurs in nonketotic hyperglycinaemia, a primary defect in the glycine cleavage pathw...
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Article
Clinical and molecular aspects of nephropathic cystinosis
Nephropathic cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the disulfide amino acid cystine out of cellular lysosomes. The consequent accumulatio...
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Article
Clinical and biochemical findings in Puerto Ricans and Non-Puerto Ricans with Hermansky-Pudlak Syndrome (HPS) † 603
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Article
Recent advances in the treatment of cystinosis
Cysteamine bitartrate capsules (Cystagon) have been approved by the US Food and Drug Administration for use in patients with nephropathic cystinosis. Plasma cysteamine concentrations were virtually identical a...
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Article
Persistent hypermethioninaemia with dominant inheritance
A clinically benign form of persistent hypermethioninaemia with probable dominant inheritance was demonstrated in three generations of one family. Plasma methionine concentrations were between 87 and 475 µmol/...
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Article
Alternative methionine degradation via the transamination pathway: an option for therapy for homocystinuria due to cystathionine synthase deficiency
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Chapter
Effects of Transsulfuration Defects on Selenium Status
The identification of selenomethionine (SeMET) as a major form of selenium (Se) in several plant protein foods1 and the retention of SeMET, as such, in animal tissues2 suggests that SeMET may be a major form of d...
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Article
SULFUR AND METHYL BALANCES IN A MAN WITH HEPATIC METHIONINE ADENOSYLTRANSFERASE (MAT) DEFICIENCY
MAT converts ATP and raethionine (met) to S-adenosylmethionine (SAM), a methyl donor and intermediate in transsulfuration to homocysteine (HS). HS is catabolized to inorganic sulfate for excretion, or is remet...
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Article
Biochemical phenoty** of a single sibship with both cystinosis and fabry disease
Two lysosomal storage diseases, cystinosis and Fabry disease, were diagnosed clinically in different members of a single sibship. The possibility that the affected sister and brother might have related disorde...
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Chapter and Conference Paper
Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis
Nephropathic cystinosis is a recessively inherited inborn error of metabolism characterized by greatly elevated levels of intracellular, intralysosomal cystine accumulation in many cells of affected individual...
