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1 taneous hyperpigmentation resembling that of alkaptonuria.
2 h the potential, but incorrect, diagnosis of alkaptonuria.
3  a study to delineate the natural history of alkaptonuria.
4 nemia (T1T) and to enter clinical trials for alkaptonuria.
5 hich are linked to the human genetic disease alkaptonuria.
6 during SONIA 2 (Suitability Of Nitisinone In Alkaptonuria 2) at months 3 (V2), 12 (V3), 24 (V4), 36 (
7 hermore, blood samples from individuals with alkaptonuria (a rare genetic metabolic disorder in the t
8                                              Alkaptonuria, a rare autosomal-recessive disorder caused
9          As an autosomal recessive disorder, alkaptonuria affects men and women equally.
10                We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical,
11 isinone decreases homogentisic acid (HGA) in Alkaptonuria (AKU) by inhibiting the tyrosine metabolic
12                                              Alkaptonuria (AKU) is a rare disease characterized by hi
13                                              Alkaptonuria (AKU) is an ultrarare autosomal recessive d
14 olites to nitisinone-induced tyrosinaemia in alkaptonuria (AKU).
15 le for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but
16            Hereditary tyrosinemia type I and alkaptonuria are disorders of tyrosine catabolism caused
17  joints, were diagnosed clinically as having alkaptonuria, but the diagnosis was withdrawn based on n
18                                        Using alkaptonuria cartilage specimens with a wide spectrum of
19                                              Alkaptonuria, caused by mutations in the HGO gene and a
20                                  Interactive alkaptonuria database: investigating clinical data to im
21 ll biosensor for homogentisic acid to detect alkaptonuria disease through the expression of green flu
22                                              Alkaptonuria is a genetic disorder of tyrosine metabolis
23 ease that affects the liver and kidneys, but alkaptonuria is a more benign adult disorder in comparis
24                                              Alkaptonuria is a rare inborn error of metabolism caused
25                                   Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where acc
26                                              Alkaptonuria is an autosomal recessive disorder caused b
27                                              Alkaptonuria is an inherited disease caused by homogenti
28                                   This novel alkaptonuria mouse model demonstrated the importance of
29                              We generated an alkaptonuria mouse model using a knockout-first design f
30  severities of ochronosis were obtained from alkaptonuria patients undergoing surgery and compared to
31 ls for the detection of homogentisic acid in alkaptonuria patients, a rare inherited disorder of amin
32 ired to lower circulating HGA and rescue the alkaptonuria phenotype.
33  The reported data on the natural history of alkaptonuria provide a basis for the evaluation of long-
34              Thus, appropriate management of alkaptonuria requires a multidisciplinary approach, and
35                                           In alkaptonuria samples with the least advanced ochronosis,
36 t the tyrosinemic locus but heterozygous for alkaptonuria spontaneously developed clonal nodules of f
37                             The diagnosis of alkaptonuria was confirmed or ruled out by measurement o
38 -eight patients with a possible diagnosis of alkaptonuria were examined at the National Institutes of