Published in J Clin Invest on April 01, 1985
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism | NCT00369421
Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol (2008) 1.72
Cystinosis: the evolution of a treatable disease. Pediatr Nephrol (2012) 1.23
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. J Clin Invest (1988) 1.11
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. Am J Hum Genet (1987) 0.93
L-Carnitine. Arch Dis Child (1996) 0.89
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest (1988) 0.82
Increased insulin sensitivity in mice lacking collectrin, a downstream target of HNF-1alpha. Mol Endocrinol (2009) 0.81
Lipoprotein lipase, hepatic lipase, and carnitine in premature infants. Arch Dis Child (1988) 0.79
The use of levo-carnitine in children with renal disease: a review and a call for future studies. Pediatr Nephrol (2005) 0.79
Role of carnitine in cancer chemotherapy-induced multiple organ toxicity. Saudi Pharm J (2010) 0.78
Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis. JIMD Rep (2014) 0.75
Fanconi syndrome associated with valporic Acid: a case report. Iran Red Crescent Med J (2011) 0.75
Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest (1976) 2.70
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science (1982) 2.49
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science (1973) 2.34
Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases. Arch Neurol (1970) 2.33
An enzymatic fluorimetric micromethod for the determination of acetoacetate, -hydroxybutyrate, pyruvate and lactate. Clin Chim Acta (1971) 1.86
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr (1982) 1.46
Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J (1983) 1.40
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med (1981) 1.38
Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics (1976) 1.35
Carnitine metabolism and inborn errors. J Inherit Metab Dis (1984) 1.30
An improved and simplified radioisotopic assay for the determination of free and esterified carnitine. J Lipid Res (1976) 1.26
Carnitine metabolism and deficiency syndromes. Mayo Clin Proc (1983) 1.12
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. J Clin Invest (1984) 1.09
Possible functions of short-chain and medium-chain carnitine acyltransferases. Fed Proc (1982) 1.07
Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport. J Clin Invest (1984) 1.02
Effect of fasting on free and esterified carnitine levels in human serum and urine: correlation with serum levels of free fatty acids and beta-hydroxybutyrate. Metabolism (1978) 0.97
Primary systemic carnitine deficiency. II. Renal handling of carnitine. Neurology (1981) 0.96
5-oxoprolinuria: biochemical observations and case report. J Pediatr (1977) 0.95
Carnitine deficiency induced during intermittent haemodialysis for renal failure. Lancet (1978) 0.90
Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations. J Pediatr (1978) 0.88
Renal handling of free and acylcarnitine in secondary carnitine deficiency. Neurology (1984) 0.88
Pantethine depletes cystinotic fibroblasts of cystine. J Pediatr (1983) 0.88
Perturbation of serum carnitine levels in human adults by chronic renal disease and dialysis therapy. Am J Clin Nutr (1981) 0.86
Primary systemic carnitine deficiency: I. Carnitine biosynthesis. Neurology (1981) 0.83
Carnitine biosynthesis and function. Introductory remarks. Fed Proc (1982) 0.82
Concentration of carnitine in human muscle tissue. Clin Chim Acta (1974) 0.82
Excretion of L-carnitine in man. Clin Chim Acta (1971) 0.80
Carnitine deficiency in premature infants receiving total parenteral nutrition: effect of L-carnitine supplementation. J Pediatr (1983) 0.79
Carnitine levels in normal children and adults and in patients with diseases muscle. Muscle Nerve (1980) 0.79
Ketone interference in estimation of urinary creatinine; effect on creatinine clearance in diabetic ketoacidosis. Clin Biochem (1982) 0.79
The effect of ketone bodies on the determination of creatinine. Clin Chim Acta (1967) 0.78
Plasma carnitine concentrations and dyslipidemia in children on maintenance hemodialysis. J Pediatr (1981) 0.78
Plasma and urine carnitine levels during development. Pediatr Res (1980) 0.77
Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy. Am J Clin Nutr (1981) 0.77
Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology (2001) 8.09
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell (1999) 4.67
The 15-Country Collaborative Study of Cancer Risk among Radiation Workers in the Nuclear Industry: estimates of radiation-related cancer risks. Radiat Res (2007) 4.41
A new approach to the classification of idiopathic inflammatory myopathy: myositis-specific autoantibodies define useful homogeneous patient groups. Medicine (Baltimore) (1991) 4.01
EULAR recommendations for the management of systemic lupus erythematosus with neuropsychiatric manifestations: report of a task force of the EULAR standing committee for clinical affairs. Ann Rheum Dis (2010) 2.52
Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science (1982) 2.49
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med (1998) 2.42
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet (1994) 2.25
Controlled trial of plasma exchange and leukapheresis in polymyositis and dermatomyositis. N Engl J Med (1992) 2.18
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy. Lancet (1991) 2.10
Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol (2001) 2.00
Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med (1993) 1.98
Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes. J Biol Chem (1982) 1.94
Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med (1987) 1.92
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab (1999) 1.91
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest (2000) 1.90
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet (2001) 1.83
Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol (1995) 1.82
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet (1996) 1.77
The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost (2010) 1.73
Waldenström's macroglobulinemia: clinical features, complications, and management. J Clin Oncol (2000) 1.72
Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. Am J Ophthalmol (1994) 1.70
High-dose intravenous immunoglobulin in the treatment of demyelinating neuropathy associated with monoclonal gammopathy. Neurology (1990) 1.69
Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets. Biochem Mol Med (1997) 1.63
Classic nephropathic cystinosis as an adult disease. JAMA (1993) 1.62
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry (2010) 1.61
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes. Mol Biol Cell (2001) 1.60
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet (2001) 1.56
Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage. Ann Neurol (1994) 1.55
Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem (2000) 1.51
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
Indian childhood cirrhosis in an American child. Gastroenterology (1992) 1.47
The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci (2001) 1.46
CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet (1998) 1.41
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Science (1986) 1.41
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med (1991) 1.41
Current concepts in the idiopathic inflammatory myopathies: polymyositis, dermatomyositis, and related disorders. Ann Intern Med (1989) 1.40
Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease. J Pediatr (1992) 1.40
Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J (1983) 1.40
Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic (2000) 1.40
Proteomic analysis of platelet alpha-granules using mass spectrometry. J Thromb Haemost (2007) 1.40
NTBC and alkaptonuria. Am J Hum Genet (1998) 1.38
Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta (1997) 1.35
Lorenzo's oil--hope and disappointment. N Engl J Med (1993) 1.34
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res (2000) 1.32
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol (1993) 1.32
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet (2001) 1.28
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med (2000) 1.27
Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes. J Biol Chem (1982) 1.25
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab (1995) 1.24
Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester. Proc Natl Acad Sci U S A (1982) 1.21
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab (1999) 1.21
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem Mol Med (1996) 1.20
Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab (1998) 1.20
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am J Hum Genet (1999) 1.16
Reversible axonal neuropathy from the treatment of AIDS and related disorders with 2',3'-dideoxycytidine (ddC). Muscle Nerve (1989) 1.15
A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leukocyte free cystine in nephropathic cystinosis. Pediatr Res (1988) 1.14
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med (2002) 1.14
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. J Clin Invest (1988) 1.11
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. J Biol Chem (1989) 1.10
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet (1996) 1.10
Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33. Gene (2001) 1.10
Transamination of methionine in humans. Clin Sci (Lond) (1989) 1.10
CTNS mutations in patients with cystinosis. Hum Mutat (1999) 1.09
Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol (1986) 1.09
Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem J (1985) 1.08
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res (2000) 1.07
Plasma amino acids in appropriate- and small-for-gestational-age fetuses. Am J Obstet Gynecol (1989) 1.07
Lysosomal cystine counter-transport in heterozygotes for cystinosis. Am J Hum Genet (1984) 1.07
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. Lab Invest (1998) 1.07
Baseline elevated leukocyte count in peripheral blood is associated with poor survival in patients with advanced non-small cell lung cancer: a prognostic model. J Cancer Res Clin Oncol (2008) 1.07
Distal vacuolar myopathy in nephropathic cystinosis. Ann Neurol (1994) 1.04
Membrane microviscosity is increased in the erythrocytes of patients with adrenoleukodystrophy and adrenomyeloneuropathy. J Clin Invest (1983) 1.04
Blunted prolactin response to thyrotropin-releasing hormone stimulation in cystinotic children receiving cysteamine. J Clin Endocrinol Metab (1985) 1.04
Recent advances in the treatment of cystinosis. J Inherit Metab Dis (1995) 1.04
Course of nephropathic cystinosis after age 10 years. J Pediatr (1986) 1.04
Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology (1995) 1.03
A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis. Mol Genet Metab (1998) 1.02
Cystinosis coming of age. Adv Pediatr (1986) 1.02
Sialic acid metabolism in sialuria fibroblasts. J Biol Chem (1991) 1.02
A family with three independent autosomal translocations associated with 7q32----7qter syndrome. J Med Genet (1985) 1.02
Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. J Inherit Metab Dis (1993) 1.01
Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl J Med (1987) 1.00
Neurologic complications in long-standing nephropathic cystinosis. Arch Neurol (1989) 1.00
Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol. Biochem J (1998) 1.00
Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. N Engl J Med (1982) 0.99
Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail. J Biol Chem (2001) 0.99
Polyamine degradation in foetal and adult bovine serum. Biochem J (1982) 0.99