Published in Metabolism on June 01, 2005
Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria | NCT01390077
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis (2011) 1.18
Alkaptonuria. Rare Dis (2013) 1.18
Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep (2011) 1.16
Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis (2011) 1.12
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat (2009) 1.11
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis (2008) 1.02
Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition. Osteoarthritis Cartilage (2012) 1.00
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest (2011) 0.99
Nine cases of Alkaptonuria in one family in southern Jordan. Rheumatol Int (2010) 0.97
Alkaptonuria. Indian J Dermatol (2011) 0.93
Pathology of the ear. Semin Plast Surg (2011) 0.89
Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis (2011) 0.87
Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. BMJ Case Rep (2013) 0.81
Ochronosis as an unusual cause of valvular defect: a case report. J Med Case Rep (2009) 0.80
Impact of chronic kidney disease on the natural history of alkaptonuria. Clin Kidney J (2012) 0.80
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep (2015) 0.79
Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report. JIMD Rep (2014) 0.79
Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing. Rheumatology (Oxford) (2016) 0.78
Alkaptonuria: leading to the treasure in exceptions. JIMD Rep (2011) 0.76
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. J Inherit Metab Dis (2015) 0.75
Treatment of nongout joint deposition diseases: an update. Arthritis (2014) 0.75
Aortic stenosis and vascular calcifications in alkaptonuria. Mol Genet Metab (2011) 0.75
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD Rep (2016) 0.75
Fatal oxidative haemolysis and methaemoglobinaemia in a patient with alkaptonuria and acute kidney injury. Clin Kidney J (2014) 0.75
[Acute bilateral shoulder pain as initial presentation of ochronosis: a case report and literature review]. Z Rheumatol (2010) 0.75
Alkaptonuria in France: past experience and lessons for the future. J Inherit Metab Dis (2011) 0.75
Acute fatal metabolic complications in alkaptonuria. J Inherit Metab Dis (2015) 0.75
Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. Clin Rheumatol (2015) 0.75
Chemical individuality: concept and outlook. J Inherit Metab Dis (2008) 0.75
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med (2006) 6.17
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
Natural history of alkaptonuria. N Engl J Med (2002) 5.32
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50
Preoperative assessment enables the early diagnosis and successful treatment of lymphedema. Cancer (2008) 3.49
Biochemicals associated with pain and inflammation are elevated in sites near to and remote from active myofascial trigger points. Arch Phys Med Rehabil (2008) 2.90
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77
Orthodontic speciality training in the UK. J Orthod (2002) 2.67
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65
In the land of no evidence, is the salesman king? Am J Orthod Dentofacial Orthop (2010) 2.64
Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium. J Clin Endocrinol Metab (2003) 2.53
The myeloperoxidase product hypochlorous acid oxidizes HDL in the human artery wall and impairs ABCA1-dependent cholesterol transport. Proc Natl Acad Sci U S A (2004) 2.39
An in vivo microanalytical technique for measuring the local biochemical milieu of human skeletal muscle. J Appl Physiol (1985) (2005) 2.37
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest (2007) 2.04
Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98
Phase mismatch-free nonlinear propagation in optical zero-index materials. Science (2013) 1.90
Novel applications of ultrasound technology to visualize and characterize myofascial trigger points and surrounding soft tissue. Arch Phys Med Rehabil (2009) 1.90
Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86
Constraint-induced therapy in stroke: magnetic-stimulation motor maps and cerebral activation. Neurorehabil Neural Repair (2003) 1.83
Edge nonlinear optics on a MoS₂ atomic monolayer. Science (2014) 1.83
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82
Cytotoxic T lymphocyte-associated antigen 4 blockade in patients with metastatic melanoma: a new cause of uveitis. J Immunother (2004) 1.77
High prevalence of osteonecrosis of the femoral head in HIV-infected adults. Ann Intern Med (2002) 1.74
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69
How gender impacts career development and leadership in rehabilitation medicine: a report from the AAPM&R research committee. Arch Phys Med Rehabil (2007) 1.66
Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis. J Natl Cancer Inst (2010) 1.65
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet (2011) 1.54
Unexplained nephrotic-range proteinuria in a 38-year-old man: a case of "no change disease". Am J Kidney Dis (2004) 1.54
A multicenter pilot evaluation of the National Institutes of Health chronic graft-versus-host disease (cGVHD) therapeutic response measures: feasibility, interrater reliability, and minimum detectable change. Biol Blood Marrow Transplant (2011) 1.54
Cancer-related fatigue: implications for breast cancer survivors. Cancer (2012) 1.53
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Relationship of aortic valve calcification with coronary artery calcium severity: the Multi-Ethnic Study of Atherosclerosis (MESA). J Cardiovasc Comput Tomogr (2009) 1.52
Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet (2011) 1.48
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol (2007) 1.47
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol (2002) 1.45
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat (2007) 1.44
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38
Ethnic differences between extra-coronary measures on cardiac computed tomography: multi-ethnic study of atherosclerosis (MESA). Atherosclerosis (2007) 1.38
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res (2002) 1.37
Bone mineral density in estrogen-deficient young women. J Clin Endocrinol Metab (2009) 1.33
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res (2005) 1.30
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res (2002) 1.28
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr (2006) 1.26
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med (2012) 1.26
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab (2002) 1.25
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat (2013) 1.25
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Cystinosis: the evolution of a treatable disease. Pediatr Nephrol (2012) 1.23
Predictors of acquired lipodystrophy in juvenile-onset dermatomyositis and a gradient of severity. Medicine (Baltimore) (2008) 1.22
A prospective surveillance model for rehabilitation for women with breast cancer. Cancer (2012) 1.21
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet (2011) 1.18
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol (2005) 1.18
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet (2002) 1.18
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood (2003) 1.18
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood (2004) 1.17
Objective sonographic measures for characterizing myofascial trigger points associated with cervical pain. J Ultrasound Med (2011) 1.17
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2010) 1.16
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. Am J Respir Crit Care Med (2009) 1.15
Hermansky-Pudlak syndrome: health care throughout life. Pediatrics (2013) 1.15
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol (2008) 1.14
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab (2011) 1.13
GLP-1 response to a mixed meal: what happens 10 years after Roux-en-Y gastric bypass (RYGB)? Obes Surg (2012) 1.13
Effect of leptin replacement on pituitary hormone regulation in patients with severe lipodystrophy. J Clin Endocrinol Metab (2002) 1.12
Renal glucosuria due to SGLT2 mutations. Mol Genet Metab (2004) 1.11
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology (2012) 1.11
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat (2009) 1.11