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blue sclerae (24) 24
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osteogenesis imperfecta (14) 14
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Case Report - Early detection of alkaptonuria, 12/2005
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like... 
Alkaptonuria, Blue sclerae, Ochronosis
Journal
Metabolism, ISSN 0026-0495, 2017, Volume 80, pp. 27 - 37
Journal Article
Pediatric pharmacology, ISSN 1727-5776, 07/2018, Volume 15, Issue 3, pp. 224 - 232
Osteogenesis imperfect (OI) is a rare genetic disease of connective tissue, the main manifestation are fractures that are developing due to increased bone... 
d entinogenesis imperfecta | bone fractures | markers of bone turnover | osteopetrosis | osteoporosis | blue sclerae
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2008, Volume 82, Issue 5, pp. 1217 - 1222
Journal Article
THERAPEUTICS AND CLINICAL RISK MANAGEMENT, ISSN 1178-203X, 2010, Volume 6, Issue default, pp. 367 - 381
Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder.... 
dentinogenesis imperfecta | adult onset deafness | connective tissue malfunction | bone brittleness | "brittle bone disease" | blue sclerae | HEALTH CARE SCIENCES & SERVICES | joint laxity | short stature | osteogenesis imperfecta | progressive skeletal deformities | bone genetic disorder
Journal Article
Pediatričeskaâ Farmakologiâ, ISSN 1727-5776, 12/2015, Volume 12, Issue 5, pp. 579 - 588
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal... 
brittle bones | rankl | children | blue sclerae | collagen | frequent bone fractures | bisphosphonates | osteogenesis imperfecta | sclerostin
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 10/2009, Volume 74, Issue 6
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine,... 
Alkaptonuria | homogentisic acid | blue sclerae | dark urine
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 12/2005, Volume 71, Issue 3
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like... 
Alkaptonuria | Ochronosis | Blue sclerae
Journal Article
2017, Colloquium series on genomic and molecular medicine, ISBN 1615047441, 78
Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone... 
Life Sciences | Genetics | SCIENCE | Molecular Biology | Genetics & Genomics | MEDICAL | Osteogenesis imperfecta
eBook
Indian Journal of Endocrinology and Metabolism, ISSN 2230-8210, 11/2017, Volume 21, Issue 6, pp. 903 - 908
Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal... 
collagen | osteogenesis imperfecta | Bisphosphonate | Osteogenesis imperfecta | Collagen | Genetic aspects | Fractures | Scoliosis | Mineralization | Genes | Vertebra | Hydroxyapatite | Mutation | Bone diseases | Hearing impairment | Endocrinology | Defects
Journal Article
Cornea, ISSN 0277-3740, 02/2007, Volume 26, Issue 2, pp. 154 - 157
PURPOSE:To determine the visual and anatomic outcomes of epikeratoplasty in keratoglobus. METHODS:In an interventional case series, 7 eyes of 6 patients with... 
Epikeratoplasty | Blue sclera | Keratoglobus | BLUE SCLERAE | SURGICAL TECHNIQUE | keratoglobus | DISORDER | OPHTHALMOLOGY | epikeratoplasty | LAMELLAR KERATOPLASTY | blue sclera | CONNECTIVE-TISSUE | Cornea - surgery | Corneal Transplantation - methods | Humans | Adolescent | Adult | Treatment Outcome | Cornea - pathology | Child | Corneal Diseases - pathology | Corneal Diseases - surgery | Suture Techniques
Journal Article
Therapeutics and clinical risk management, ISSN 1176-6336, 09/2010, Volume 6, pp. 367 - 381
Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder.... 
dentinogenesis imperfecta | adult onset deafness | connective tissue malfunction | bone brittleness | brittle bone disease | blue sclerae | joint laxity | short stature | Review | osteogenesis imperfecta | progressive skeletal deformities | bone genetic disorder
Journal Article
Journal of Indian Society of Pedodontics and Preventive Dentistry, ISSN 0970-4388, 05/2006, Volume 24, Issue 5, pp. S44 - S46
Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta... 
Osteogenesis imperfecta | Bone fragility | Blue sclerae | Genetic research | Genetic aspects | osteogenesis imperfecta | bone fragility
Journal Article
Ophthalmic and Physiological Optics, ISSN 0275-5408, 03/2007, Volume 27, Issue 2, pp. 174 - 178
Background:  Blue colouration of the sclera is a distinctive feature of unknown aetiology in osteogenesis imperfecta (OI). It has value as a diagnostic marker,... 
blue coloration | colour measurement | grading scale | colour description | collagen | sclera | osteogenesis imperfecta | Grading scale | Blue coloration | Collagen | Colour measurement | Osteogenesis imperfecta | Colour description | Sclera | BLUE SCLERAE | OPHTHALMOLOGY | Color Perception Tests - methods | Osteogenesis Imperfecta - diagnosis | Humans | Middle Aged | Adolescent | Sclera - abnormalities | Adult | Child
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 11/2008, Volume 74, Issue 6, pp. 700 - U8
Journal Article
10/2009
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. Characteristic features include darkening of urine,... 
homogentisic acid | Alkaptonuria | blue sclerae | dark urine
Web Resource
Indian Journal of Otolaryngology and Head and Neck Surgery, ISSN 0019-5421, 07/2003, Volume 55, Issue 3, pp. 188 - 192
It is relatively rare, dominant form of syndrome characterized by combination of blue sclerae brittle banes and Hearing loss. One of the conditions may be... 
Blue sclerae | Genetic disease | Hearing loss
Journal Article
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