Natural history of alkaptonuria.

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98

New developments in ochronosis: review of the literature. Rheumatol Int (2004) 1.66

Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin Med Res (2004) 1.23

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

On the ocular findings in ochronosis: a systematic review of literature. BMC Ophthalmol (2014) 1.09

Cardiovascular manifestations of Alkaptonuria. J Inherit Metab Dis (2011) 1.08

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

Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. PLoS One (2014) 0.99

Biochemical and proteomic characterization of alkaptonuric chondrocytes. J Cell Physiol (2012) 0.99

Cardiac ochronosis: valvular heart disease with dark green discoloration of the leaflets. Tex Heart Inst J (2004) 0.99

Nine cases of Alkaptonuria in one family in southern Jordan. Rheumatol Int (2010) 0.97

The crystal structures of Zea mays and Arabidopsis 4-hydroxyphenylpyruvate dioxygenase. Plant Physiol (2004) 0.96

Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis. J Inherit Metab Dis (2011) 0.96

Alkaptonuria. Indian J Dermatol (2011) 0.93

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. JIMD Rep (2015) 0.90

A late and difficult diagnosis of ochronosis. J Med Life (2011) 0.90

Ochronotic spondyloarthropathy. J Clin Diagn Res (2013) 0.89

A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems. J Inherit Metab Dis (2011) 0.89

Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis (2011) 0.87

Alkaptonuria, more than just a mere disease. J Neurosci Rural Pract (2015) 0.85

A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria. Clin Rheumatol (2015) 0.85

The battlefield of rare diseases: where uncommon insights are common. Sci Transl Med (2012) 0.84

Steady-state kinetics and inhibition of anaerobically purified human homogentisate 1,2-dioxygenase. Biochem J (2005) 0.82

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. Rheumatol Int (2011) 0.82

Ochronotic arthropathy: pathological evidence of acute destruction of the hip joint. Clin Rheumatol (2006) 0.82

Three-generational alkaptonuria in a non-consanguineous family. J Inherit Metab Dis (2008) 0.82

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. BMJ Case Rep (2013) 0.81

Impact of chronic kidney disease on the natural history of alkaptonuria. Clin Kidney J (2012) 0.80

Ochronosis as an unusual cause of valvular defect: a case report. J Med Case Rep (2009) 0.80

Alkaptonuria. N Engl J Med (2003) 0.80

Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report. JIMD Rep (2014) 0.79

Bisphosphonate treatment in ochronotic osteoporotic patients. Clin Rheumatol (2006) 0.79

The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis. JIMD Rep (2015) 0.79

Subchondral insufficiency fracture of the femoral head in a patient with alkaptonuria. Skeletal Radiol (2013) 0.78

Ochronotic involvement of the aortic and mitral valves in a 72-year-old man. Tex Heart Inst J (2015) 0.78

Patients with black hip and black knee due to ochronotic arthropathy: case report and review of literature. Oman Med J (2013) 0.78

Progress in Alkaptonuria--are we near to an effective therapy? J Inherit Metab Dis (2015) 0.77

First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. PLoS One (2014) 0.77

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review. Clin Rheumatol (2014) 0.77

Muscleblind-like 1 is required for normal heart valve development in vivo. BMC Dev Biol (2015) 0.76

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

Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria. Indian J Urol (2012) 0.75

Brown urine and black hip. CMAJ (2012) 0.75

Alkaptonuria in a 6 Year Old Patient: Case Report. Urol Case Rep (2015) 0.75

A black femoral head. BMJ Case Rep (2009) 0.75

Commentary. J Neurosci Rural Pract (2015) 0.75

Fatal oxidative haemolysis and methaemoglobinaemia in a patient with alkaptonuria and acute kidney injury. Clin Kidney J (2014) 0.75

The Interaction of Hydroxymandelate Synthase with the 4-Hydroxyphenylpyruvate Dioxygenase Inhibitor: NTBC. Inorganica Chim Acta (2008) 0.75

Multiple Arthroplasty in a Patient with Alkaptonuric Arthritis. Chin Med J (Engl) (2015) 0.75

In Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis. Case Rep Ophthalmol Med (2015) 0.75

Alkaptonuric arthropathy with periprosthetic fracture:a case report. J Clin Diagn Res (2014) 0.75

Ochronosis diagnosed after knee arthroscopy. Int J Surg Case Rep (2014) 0.75

The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee. HSS J (2015) 0.75

Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion. Indian J Clin Biochem (2013) 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

Difficult epidural in a patient with undiagnosed alkaptonuria. Indian J Anaesth (2016) 0.75

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD Rep (2016) 0.75

Does Your Patient's Urine Turns Dark? Alkaptonuria and Low Back Ache: A Literature Review. J Orthop Case Reports (2016) 0.75

A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy. Indian J Radiol Imaging (2013) 0.75

Cerebro-spinal and renal ochronosis: A rare case report. Indian J Clin Biochem (2010) 0.75

Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. JIMD Rep (2015) 0.75

Not just another case of low back pain. BMJ Case Rep (2014) 0.75

Acute fatal metabolic complications in alkaptonuria. J Inherit Metab Dis (2015) 0.75

A case of ochronosis with gout and Monckeberg arteries. Rheumatol Int (2009) 0.75

Chemical individuality: concept and outlook. J Inherit Metab Dis (2008) 0.75

Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. Rheumatol Int (2007) 0.75

[Severe osteoarthritic manifestations of ochronosis]. Z Rheumatol (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

NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71

Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70

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

Imaging of fatty tumors: distinction of lipoma and well-differentiated liposarcoma. Radiology (2002) 2.93

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

Correlates of axial gout: a cross-sectional study. J Rheumatol (2012) 2.86

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

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65

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

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

Experimental endotoxemia induces adipose inflammation and insulin resistance in humans. Diabetes (2009) 2.27

Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25

Retro-orbital injections in mice. Lab Anim (NY) (2011) 2.09

Improved differentiation of benign osteochondromas from secondary chondrosarcomas with standardized measurement of cartilage cap at CT and MR imaging. Radiology (2010) 2.09

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

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

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

High prevalence of osteonecrosis of the femoral head in HIV-infected adults. Ann Intern Med (2002) 1.74

Use of nitisinone in patients with alkaptonuria. Metabolism (2005) 1.70

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

Diagnosis of primary bone tumors with image-guided percutaneous biopsy: experience with 110 tumors. Radiology (2002) 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

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

Pathologic and MR imaging features of benign fibrous soft-tissue tumors in adults. Radiographics (2007) 1.53

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

Molecular defects that affect platelet dense granules. Semin Thromb Hemost (2004) 1.52

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism. Mov Disord (2013) 1.51

Imaging characteristics of spindle cell lipoma. AJR Am J Roentgenol (2003) 1.49

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

Superficial soft-tissue masses: analysis, diagnosis, and differential considerations. Radiographics (2007) 1.43

Rab7 and Rab27a control two motor protein activities involved in melanosomal transport. Pigment Cell Res (2006) 1.39

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38

Nurse-led flexible cystoscopy in Australia: initial experience and early results. BJU Int (2012) 1.38

Imaging characteristics of cherubism. AJR Am J Roentgenol (2004) 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

The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease. Traffic (2013) 1.35

Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med (2012) 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

Magnetic resonance imaging of benign soft tissue neoplasms in adults. Radiol Clin North Am (2011) 1.28

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

Osseous involvement in calcific tendinitis: a retrospective review of 50 cases. AJR Am J Roentgenol (2003) 1.28

From the archives of the AFIP. Radiologic spectrum of Paget disease of bone and its complications with pathologic correlation. Radiographics (2002) 1.27

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

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 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