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カテゴリ 先天性遺伝子オレゴン, 腎臓病 周波数 珍しい (U.S.)

年齢によって起こりやすくなります

症状のある期間で可能

関連医師の種類 family practitioner internist nephrologist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

アデニンのホスホリボシルトランスフェラーゼ欠損 - 継承された腎臓病 に定義されています アデニンのホスホリボシルトランスフェラーゼ欠損 2,8 dihydroxy-adenine urolithiasis (also called adenine phosphoribosyltransferase deficiency) is an autosomal recessive disorder resulting in accumulation and urinary excretion of the insoluble purine 2,8-dihydroxyadenine. よりたくさんの 2,8 dihydroxy-adenine urolithiasis (also called adenine phosphoribosyltransferase deficiency) is an autosomal recessive disorder resulting in accumulation and urinary excretion of the insoluble purine 2,8-dihydroxyadenine. It can result in nephrolithiasis, acute renal failure and permanent kidney damage. less いくつかの共通の現象 尿中の血液 has acute renal failure 高血圧 以下、通常よりも排尿 いくつかの関連診断 1 - 7 of 61 診断 急性腎不全 急性尿細管壊死 尿路閉塞 ループス腎炎 常染色体優性多発性嚢胞腎疾患 シスチン尿 腎動脈閉塞   より 私はありますか？ 'アデニンのホスホリボシルトランスフェラーゼ欠損'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために 'アデニンのホスホリボシルトランスフェラーゼ欠損' 1 - 5 of 11 診断テスト urine 2,8, dihydroxyadenine アデニンのホスホリボシルトランスフェラーゼ欠損 および urine 2,8, dihydroxyadenine 尿8 - hyroxyadenine アデニンのホスホリボシルトランスフェラーゼ欠損 および 尿8 - hyroxyadenine 尿素 アデニンのホスホリボシルトランスフェラーゼ欠損 および 尿素 完全な代謝パネルを開きます アデニンのホスホリボシルトランスフェラーゼ欠損 および 完全な代謝パネルを開きます KUB アデニンのホスホリボシルトランスフェラーゼ欠損 および KUB 血清クレアチニン アデニンのホスホリボシルトランスフェラーゼ欠損 および 血清クレアチニン 尿検査 Examination of urine to detect disease アデニンのホスホリボシルトランスフェラーゼ欠損 および 尿検査 尿培養 アデニンのホスホリボシルトランスフェラーゼ欠損 および 尿培養 尿アデニン アデニンのホスホリボシルトランスフェラーゼ欠損 および 尿アデニン 血清電解質 アデニンのホスホリボシルトランスフェラーゼ欠損 および 血清電解質 lithotripsy アデニンのホスホリボシルトランスフェラーゼ欠損 および lithotripsy 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 治療の手順を 'アデニンのホスホリボシルトランスフェラーゼ欠損'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です Adenine phosphoribosyltransferase deficiency: 治療の手順の検索結果 'アデニンのホスホリボシルトランスフェラーゼ欠損' 1 - 1 of 1 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 腎移植 アデニンのホスホリボシルトランスフェラーゼ欠損 および 腎移植 薬の検索結果 'アデニンのホスホリボシルトランスフェラーゼ欠損' 1 - 1 of 1 薬 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください.   Allopurinol アデニンのホスホリボシルトランスフェラーゼ欠損 および Allopurinol ウェブ検索結果調査のための アデニンのホスホリボシルトランスフェラーゼ欠損 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - Adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase deficiency identified by urinary ... Adenine phosphoribosyltransferase deficiency is an autosomal recessive purine ... the detection of adenine phosphoribosyltransferase deficiency in two cases by ... http://www.ncbi.nlm.nih.gov/pubmed/8825602   www.ncbi.nlm.nih.gov - summary Adenine phosphoribosyltransferase deficiency - Wikipedia, the free ... Adenine phosphoribosyltransferase(APRT) deficiency" (Free full text). Nippon rinsho. ... Adenine phosphoribosyltransferase deficiency identified by urinary sediment ... http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency   en.wikipedia.org - summary Human adenine phosphoribosyltransferase deficiency. Demonstration of a ... Complete adenine phosphoribosyltransferase (APRT) deficiency causes 2,8 ... Adenine Phosphoribosyltransferase/deficiency* Adenine Phosphoribosyltransferase/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/3343350   www.ncbi.nlm.nih.gov - summary Adenine phosphoribosyltransferase - Wikipedia, the free encyclopedia ... to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects. ... Human adenine phosphoribosyltransferase deficiency. ... http://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase   en.wikipedia.org - summary A mutant allele common to the type I adenine phosphoribosyltransferase ... ... type I adenine phosphoribosyltransferase deficiency in Japanese ... Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder which ... http://www.ncbi.nlm.nih.gov/pubmed/1985452   www.ncbi.nlm.nih.gov - summary Adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase deficiency. Author: Dr H. Anne Simmonds. 1 ... Adenine phosphoribosyltransferase deficiency. Orphanet Encyclopedia, July 2003. ... http://www.orpha.net/data/patho/GB/uk-APRT.pdf   www.orpha.net - summary A case of a compound heterozygote for adenine phosphoribosyltransferase ... ... heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT ... derivatives* Adenine/analysis. Adenine Phosphoribosyltransferase/deficiency ... http://www.ncbi.nlm.nih.gov/pubmed/8455250   www.ncbi.nlm.nih.gov - summary Purine and Pyrimidine Metabolism Disorders: Inherited Disorders of ... Adenine phosphoribosyltransferase deficiency. Disorders of Purine Nucleotide Synthesis ... Adenine phosphoribosyltransferase deficiency: This is a rare ... http://www.merck.com/mmpe/sec19/ch296/ch296i.html   www.merck.com - summary ORPHANET® : Base de données sur les maladies rares et les médicaments ... Adenine phosphoribosyltransferase deficiency. Author: Dr H. ... Adenine phosphoribosyltransferase deficiency: 2,8 ... Adenine ... http://www.orpha.net/data/patho/GB/uk-APRT.html   www.orpha.net - summary Detection of mutations in adenine phosphoribosyltransferase (APRT ... ... mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. ... Adenine/analogs & derivatives* Adenine/urine. Adenine ... http://www.ncbi.nlm.nih.gov/pubmed/11138609   www.ncbi.nlm.nih.gov - summary Purine and Pyrimidine Metabolism Disorders: Inherited Disorders of ... HPRT deficiency results in failure of the salvage pathway for hypoxanthine and guanine. ... Adenine phosphoribosyltransferase deficiency ... http://www.merck.com/mmpe/print/sec19/ch296/ch296i.html   www.merck.com - summary [Adenine phosphoribosyltransferase(APRT) deficiency] Adenine phosphoribosyltransferase(APRT) deficiency is an autosomal recessive ... Adenine/analogs & derivatives. Adenine Phosphoribosyltransferase/deficiency ... http://www.ncbi.nlm.nih.gov/pubmed/8976113   www.ncbi.nlm.nih.gov - summary Talk:Adenine phosphoribosyltransferase deficiency - Wikipedia, the free ... Talk:Adenine phosphoribosyltransferase deficiency. From Wikipedia, the free encyclopedia ... This article is within the scope of WikiProject Medicine. ... http://en.wikipedia.org/wiki/Talk:Adenine_phosphoribosyltransferase_deficiency   en.wikipedia.org - summary [A case of adenine phosphoribosyltransferase (APRT) deficiency ... ... case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination] ... Adenine/analogs & derivatives* Adenine/urine. Adenine ... http://www.ncbi.nlm.nih.gov/pubmed/7815752   www.ncbi.nlm.nih.gov - summary Adenylosuccinate lyase deficiency - Wikipedia, the free encyclopedia Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency   en.wikipedia.org - summary Human adenine phosphoribosyltransferase. Identification of allelic ... ... mutations leading to human adenine phosphoribosyltransferase (APRT) deficiency. ... Adenine Phosphoribosyltransferase/deficiency* Adenine ... http://www.ncbi.nlm.nih.gov/pubmed/3680503   www.ncbi.nlm.nih.gov - summary Index: AD: Merck Manual Professional Purine and Pyrimidine Metabolism Disorders: Adenine phosphoribosyltransferase deficiency ... platelet deficiency of ... Adenylosuccinase deficiency ... http://www.merck.com/mmpe/index/ind_ad.html   www.merck.com - summary Dihydropyrimidine dehydrogenase deficiency - Wikipedia, the free ... Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency   en.wikipedia.org - summary Myoadenylate deaminase deficiency - Wikipedia, the free encyclopedia Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Myoadenylate_deaminase_deficiency   en.wikipedia.org - summary [Phosphoribosyltransferase (APRT) deficiency--molecular and clinical ... [Phosphoribosyltransferase (APRT) deficiency--molecular and ... Adenine/analogs & derivatives* Adenine/urine. Adenine Phosphoribosyltransferase/deficiency ... http://www.ncbi.nlm.nih.gov/pubmed/9608233   www.ncbi.nlm.nih.gov - summary Purine nucleoside phosphorylase deficiency - Wikipedia, the free ... ... Purine Nucleoside Phosphorylase Deficiency : Article by Alan P ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency   en.wikipedia.org - summary 2,8-Dihydroxyadenine renal stones in a 41-year-old man. ... for the rare autosomal-recessive adenine phosphoribosyltransferase deficiency, ... Adenine Phosphoribosyltransferase/deficiency* Adult. Allopurinol ... http://www.ncbi.nlm.nih.gov/pubmed/15025810   www.ncbi.nlm.nih.gov - summary Adenosine deaminase deficiency - Wikipedia, the free encyclopedia Adenosine deaminase deficiency: frequency and comparative ... (ADA) Deficiency" ... Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Adenosine_deaminase_deficiency   en.wikipedia.org - summary Only three mutations account for almost all defective alleles causing ... ... alleles of adenine phosphoribosyltransferase (APRT) deficiency in Japanese patients. ... Adenine Phosphoribosyltransferase/deficiency* Alleles ... http://www.ncbi.nlm.nih.gov/pubmed/1353080   www.ncbi.nlm.nih.gov - summary [Acute renal failure and 2,8-dihydroxyadeninuria] ... due to a deficiency of adenine phosphoribosyltransferase, a purine salvage enzyme. ... Adenine/urine* Adenine Phosphoribosyltransferase/deficiency ... http://www.ncbi.nlm.nih.gov/pubmed/15584640   www.ncbi.nlm.nih.gov - summary Clinical, biochemical and molecular diagnosis of a compound homozygote ... ... of the patient for suspected adenine phosphoribosyltransferase (APRT) deficiency. ... Adenine Phosphoribosyltransferase/deficiency. Adenine ... http://www.ncbi.nlm.nih.gov/pubmed/17126311   www.ncbi.nlm.nih.gov - summary Identification of a splice mutation at the adenine ... ... the molecular basis of adenine phosphoribosyltransferase (APRT) deficiency in ... Adenine Phosphoribosyltransferase/deficiency. Adenine ... http://www.ncbi.nlm.nih.gov/pubmed/2135300   www.ncbi.nlm.nih.gov - summary Hypoxanthine-guanine phosphoribosyltransferase - Wikipedia, the free ... Human hypoxanthine-guanine phosphoribosyltransferase deficiency. ... phosphorylase · Adenine phosphoribosyltransferase · Hypoxanthine-guanine ... http://en.wikipedia.org/wiki/Hypoxanthine-guanine_phosphoribosyltransferase   en.wikipedia.org - summary Detection of an amino acid substitution in the mutant enzyme for a ... ... phosphoribosyltransferase (APRT) deficiency by sequence ... Adenine Phosphoribosyltransferase/deficiency. Adenine Phosphoribosyltransferase/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/2502918   www.ncbi.nlm.nih.gov - summary Orphanet: 2,8 dihydroxyadenine urolithiasis The portal for rare diseases and orphan drugs ... Adenine phosphoribosyltransferase deficiency. Summary. Adenine phosphoribosyltransferase (APRT) catalyzes the ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=976   www.orpha.net - summary [2,8-Dihydroxyadeninuria: 2.8-dihydroxyadenine crystals in urinary ... ... urinary sediment in patients with adenine-phosphoribosyltransferase deficiency] ... Activity of adenine-phosphoribosyltransferase (A-PRTase) in red blood ... http://www.ncbi.nlm.nih.gov/pubmed/7140571   www.ncbi.nlm.nih.gov - summary 2,8-Dihydroxyadenine urolithiasis in a patient with considerable ... ... of adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) deficiency (MIM 102600) ... Adenine Phosphoribosyltransferase/metabolism* Child. DNA Mutational ... http://www.ncbi.nlm.nih.gov/pubmed/11243733   www.ncbi.nlm.nih.gov - summary 2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone? Adenine/analogs & derivatives. Adenine/urine* Adenine Phosphoribosyltransferase/deficiency ... Adenine Phosphoribosyltransferase. PMID: 389507 [PubMed ... http://www.ncbi.nlm.nih.gov/pubmed/389507   www.ncbi.nlm.nih.gov - summary Protecting genomic integrity in somatic cells and embryonic stem cells. Adenine Phosphoribosyltransferase/deficiency. Adenine Phosphoribosyltransferase/genetics ... Adenine Phosphoribosyltransferase. checkpoint kinase 2. Protein ... http://www.ncbi.nlm.nih.gov/pubmed/16914171?ordinalpos=1&ito...   www.ncbi.nlm.nih.gov - summary Polymerase chain reaction amplification and sequence analysis of human ... Adenine Phosphoribosyltransferase/deficiency. Adenine Phosphoribosyltransferase/genetics ... Adenine Phosphoribosyltransferase. Taq Polymerase. DNA-Directed ... http://www.ncbi.nlm.nih.gov/pubmed/2067530   www.ncbi.nlm.nih.gov - summary Uridine(uracil) - NextBio ... of RNA with uracil phosphoribosyltransferase allows cell-specific microarray ... Folate deficiency induces genomic uracil misincorporation and hypomethylation ... http://www.nextbio.com/b/home/home.nb?q=uracil   www.nextbio.com - summary Crossovers within a short DNA sequence indicate a long evolutionary ... Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine ... Adenine Phosphoribosyltransferase. PMID: 2227951 [PubMed - indexed for MEDLINE] ... http://www.ncbi.nlm.nih.gov/pubmed/2227951   www.ncbi.nlm.nih.gov - summary WebMD Drugs & Medications ? Medical information on prescription drugs ... Answer your medical questions on prescription drugs, vitamins and Over ... Adenine Phosphoribosyltransferase Deficiency. Adhesion of Iris to Capsule of Lens ... http://www.webmd.com/drugs/index-drugs.aspx?alpha=A&show=conditions   www.webmd.com - summary Structure Summary, 1G2Q, 18105 Adenine phosphoribosyltransferase (APRTase) is a widely distributed enzyme, and its deficiency in humans causes the accumulation of 2,8-dihydroxyadenine. ... http://www.ncbi.nlm.nih.gov/Structure/mmdb/mmdbsrv.cgi?uid=1G2Q   www.ncbi.nlm.nih.gov - summary Identification of two novel mutations in adenine ... Five mutations in the adenine phosphoribosyltransferase (APRT) gene have been ... gene from three patients with APRT deficiency and two novel mutations, G133D and ... http://www.ncbi.nlm.nih.gov/pubmed/15571218   www.ncbi.nlm.nih.gov - summary Lesch-Nyhan syndrome - Wikipedia, the free encyclopedia ... a deficiency of the enzyme hypoxanthine-guanine ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Lesch-Nyhan_syndrome   en.wikipedia.org - summary Structure Summary, 1QB7, 10902 APRT deficiency in humans is a well characterized inborn error of metabolism, ... Crystal Structures Of Adenine Phosphoribosyltransferase From Leishmania Donovani. ... http://www.ncbi.nlm.nih.gov/Structure/mmdb/mmdbsrv.cgi?uid=10902   www.ncbi.nlm.nih.gov - summary Identification of a single missense mutation in the adenine ... ... be responsible for APRT deficiency in the Icelandic population. ... Adenine Phosphoribosyltransferase. Secondary Source ID: GENBANK/M77181. GENBANK/S62061 ... http://www.ncbi.nlm.nih.gov/pubmed/1746557   www.ncbi.nlm.nih.gov - summary Xanthinuria - Wikipedia, the free encyclopedia It is caused by a deficiency of the enzyme xanthine oxidase. ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Xanthinuria   en.wikipedia.org - summary Hypouricemia - Wikipedia, the free encyclopedia Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... Dihydropyrimidine dehydrogenase deficiency. see also nucleotide ... http://en.wikipedia.org/wiki/Hypouricemia   en.wikipedia.org - summary Structure Summary, 1ORE, 26787 In mammals, adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) is present in ... In humans, APRT deficiency results in serious kidney illness such as ... http://www.ncbi.nlm.nih.gov/Structure/mmdb/mmdbsrv.cgi?uid=26787   www.ncbi.nlm.nih.gov - summary Purine metabolism - Wikipedia, the free encyclopedia The enzyme adenine phosphoribosyltransferase (APRT) salvages adenine. ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Purine_synthesis_inhibitor   en.wikipedia.org - summary Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography ... ... a severe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and ... use of stable isotope labeled guanine and adenine as the internal standards. ... http://www.ncbi.nlm.nih.gov/pubmed/12829005   www.ncbi.nlm.nih.gov - summary Molecular characterization and overexpression of the hypoxanthine ... ... expression complemented the bacterial phosphoribosyltransferase deficiencies. ... guanine, and allopurinol, but not adenine or xanthine, as substrates. ... http://www.ncbi.nlm.nih.gov/pubmed/7969265   www.ncbi.nlm.nih.gov - summary Hyperuricemia - Wikipedia, the free encyclopedia Foods high in the purines adenine and hypoxanthine may be more potent in ... Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency ... http://en.wikipedia.org/wiki/Hyperuricemia   en.wikipedia.org - summary もっと表示 1  2