The nature of the defect in tyrosine metabolism in alcaptonuria.
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On the ocular findings in ochronosis: a systematic review of literatureOn the origin and prevention of PAIDS (Paralyzed Academic Investigator's Disease Syndrome)Inherited metabolic disease in companion animals: searching for nature's mistakesA 3-year randomized therapeutic trial of nitisinone in alkaptonuriaAre we ready to try to cure alkaptonuria?Osteoarthrosis in patients and populationsAortic stenosis and vascular calcifications in alkaptonuriaTHE EPIDEMIOLOGY OF RHEUMATIC DISEASES.Cortisone-provoked depression of plasma tyrosine concentration: relation to enzyme induction in man.High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.A black femoral head.Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.INHERITED ENZYME DEFECTS: A REVIEW.Sir Archibald Garrod's inborn errors of metabolism. II. AlkaptonuriaAnalysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsNitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.Biochemical and proteomic characterization of alkaptonuric chondrocytes.Genome-wide transcriptomics of aging in the rotifer Brachionus manjavacas, an emerging model system.Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation DatabaseThe Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a KneeTwelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia.Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.Alkaptonuria.Innate immunity and the new forward genetics.Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.Deranged tyrosine metabolism in cirrhosis.Alkaptonuria, more than just a mere disease.A survey of some hereditary metabolic diseases.Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.Inborn errors of metabolism: Garrod's legacy.CLINICAL AND PATHOLOGICAL FINDINGS IN OCHRONOSIS.Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.SELECTIONS FROM THE FIELD OF BIOCHEMICAL ABNORMALITIES.A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy.Discoid Lupus Erythematosus: Pigmentation of the Nail Beds Following the Administration of Amodiaquine Hydrochloride.Steady-state kinetics and inhibition of anaerobically purified human homogentisate 1,2-dioxygenase.Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
P2860
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P2860
The nature of the defect in tyrosine metabolism in alcaptonuria.
description
1958 nî lūn-bûn
@nan
1958 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1958 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1958年の論文
@ja
1958年論文
@yue
1958年論文
@zh-hant
1958年論文
@zh-hk
1958年論文
@zh-mo
1958年論文
@zh-tw
1958年论文
@wuu
name
The nature of the defect in tyrosine metabolism in alcaptonuria.
@ast
The nature of the defect in tyrosine metabolism in alcaptonuria.
@en
The nature of the defect in tyrosine metabolism in alcaptonuria.
@nl
type
label
The nature of the defect in tyrosine metabolism in alcaptonuria.
@ast
The nature of the defect in tyrosine metabolism in alcaptonuria.
@en
The nature of the defect in tyrosine metabolism in alcaptonuria.
@nl
prefLabel
The nature of the defect in tyrosine metabolism in alcaptonuria.
@ast
The nature of the defect in tyrosine metabolism in alcaptonuria.
@en
The nature of the defect in tyrosine metabolism in alcaptonuria.
@nl
P2093
P1476
The nature of the defect in tyrosine metabolism in alcaptonuria.
@en
P2093
SEEGMILLER JE
ZANNONI VG
P304
P407
P577
1958-01-01T00:00:00Z