A5103225599- Biomedical Research and Pathophysiology
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Corneal surgery and disorders
- Metabolism and Genetic Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Gallbladder and Bile Duct Disorders
- Biliary and Gastrointestinal Fistulas
- Methemoglobinemia and Tumor Lysis Syndrome
- Gastrointestinal disorders and treatments
- Chronic Lymphocytic Leukemia Research
- Vasculitis and related conditions
- Lymphoma Diagnosis and Treatment
- Bone health and treatments
- Histiocytic Disorders and Treatments
- Vascular Malformations Diagnosis and Treatment
- Alcoholism and Thiamine Deficiency
- RNA regulation and disease
- Erythrocyte Function and Pathophysiology
- Immune Cell Function and Interaction
- Growth Hormone and Insulin-like Growth Factors
- Spinal Fractures and Fixation Techniques
- Glaucoma and retinal disorders
- Congenital Diaphragmatic Hernia Studies
- Cutaneous lymphoproliferative disorders research
National Human Genome Research Institute
2012-2025
National Institutes of Health
1999-2023
University of Virginia
2023
Health and Human Development (2HD) Research Network
1986-2002
Eunice Kennedy Shriver National Institute of Child Health and Human Development
1987-1999
National Eye Institute
1998
Armed Forces Institute of Pathology
1994
National Institute of Neurological Disorders and Stroke
1993
National Institute on Aging
1993
University of Michigan
1986-1987
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It most common cause of inherited renal Fanconi syndrome young children. Because its rarity, diagnosis and specific treatment cystinosis are frequently delayed, has significant impact on overall prognosis. In this document, we have summarized expert opinions several aspects disease to improve knowledge provide guidance treatment.
• Eight nephropathic-cystinotic patients having undergone renal transplantation seven to 14 years previously were studied. Serious ocular complications noted in four of the eight cases not reported. These included posterior synechiae, deposition crystals on anterior lens surface, and decreased visual acuity accompanied by impaired function, as measured psychophysical electrodiagnostic tests when possible.
In patients with nephropathic cystinosis, corneal crystals develop by one year of age; they progressively accumulate and eventually cause recurrent erosions photophobia. After an in vitro study cystinotic stromal cells showed cystine depletion cysteamine after topical was determined to be nontoxic rabbits, we performed a controlled double-blind clinical trial 10 mM eyedrops young using eye for treatment the other as control. Two children begun on protocol before two years age had striking...
Idiopathic pulmonary fibrosis (IPF) is a life-threatening disease without effective treatment, highlighting the need for identifying new targets and treatment modalities. The pathogenesis of IPF complex, engaging multiple simultaneously might improve therapeutic efficacy. To assess role endocannabinoid/cannabinoid receptor 1 (endocannabinoid/CB1R) system in its interaction with inducible nitric oxide synthase (iNOS) as dual targets, we analyzed lung status endocannabinoid/CB1R iNOS mice...
Menkes disease is a neurodegenerative disorder of copper metabolism. Because the enzyme dopamine-beta-hydroxylase requires to catalyze conversion dopamine norepinephrine, we reasoned that patients with would have neurochemical pattern similar seen in congenital absence dopamine-beta-hydroxylase, i.e., high levels dopamine, metabolite dihydroxyphenylacetic acid (DOPAC), and catecholamine precursor dihydroxyphenylalanine (DOPA), low norepinephrine its neuronal dihydroxyphenylglycol (DHPG). We...
To determine the underlying etiology in a patient with progressive dementia extrapyramidal signs and chronic inflammation referred to National Institutes of Health Undiagnosed Diseases Program.
Sialuria is a rare inborn error of metabolism, the hallmarks which are moderate developmental retardation, coarse facial features, and an enormous amount free N-acetylneuraminic acid (sialic acid) in urine. Until now, basic biochemical defect this disorder has remained uncertain. In report, activity rate-limiting enzyme biosynthesis sialic been measured directly whole cell lysates by highly sensitive assay. With technique, sialuria identified unequivocally as loss feedback control uridine...
CYSTINOSIS is an autosomal recessive disorder characterized by intracellular accumulation of cystine due to failure the normal carrier-mediated system that transports out lysosomes.1 , 2 Intracellular storage results in crystal formation many tissues body. Clinical findings include growth retardation, photophobia, renal tubular Fanconi's syndrome, and glomerular failure, generally occurring age 10 years.3 4 Before era transplantation,5 female patients with cystinosis did not survive past...
Abstract GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the GLB1 gene. uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating longitudinal effects of recovery due to therapeutic intervention urgently needed establish efficacy therapeutics. One promising tool...
GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the GLB1 gene. uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or markers demonstrating longitudinal effects of recovery due to therapeutic intervention urgently needed establish efficacy therapeutics. One promising tool differential...
Journal Article Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome Get access Donna M. Krasnewich, Krasnewich 1Section on Human Biochemical Genetics, Genetics Branch, NICHD, National Institutes HealthBuilding 10, Room 9S-242, 10 Center Drive, MSC 1830, MD 20892-1830, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Gordon D. Holt, Holt USA2Oxford Glycosystems, Inc.Bedford, MA, Mark Brantly, Brantly 3Unit...