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3ケトチオラーゼ欠損症
に定義されています 3ケトチオラーゼ欠損症
いくつかの共通の現象
いくつかの関連診断
私はありますか? '3ケトチオラーゼ欠損症'?
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 '3ケトチオラーゼ欠損症'
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血清有機酸類
3ケトチオラーゼ欠損症 および 血清有機酸類
尿クロマトグラフィー
3ケトチオラーゼ欠損症 および 尿クロマトグラフィー
尿有機酸
3ケトチオラーゼ欠損症 および 尿有機酸
尿のpH
3ケトチオラーゼ欠損症 および 尿のpH
治療の手順を '3ケトチオラーゼ欠損症'?
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 3-ketothiolase deficiency:
治療の手順の検索結果 '3ケトチオラーゼ欠損症'
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.
薬の検索結果 '3ケトチオラーゼ欠損症'
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.
ウェブ検索結果調査のための 3ケトチオラーゼ欠損症
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- alpha- methylacetoacetic aciduria
3-Methylcrotonyl-CoA carboxylase deficiency - Wikipedia, the ...
3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
en.wikipedia.org
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summary
ACAT1 - NextBio
Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine ... gene are associated with 3-ketothiolase deficiency, an inborn error of ...
http://www.nextbio.com/b/search/ov/ACAT1?type=feature&id=149
www.nextbio.com
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summary
Newborn screening tests: MedlinePlus Medical Encyclopedia
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human immunodeficiency ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Beta ketothiolase ...
http://www.nlm.nih.gov/medlineplus/ency/article/007257.htm
www.nlm.nih.gov
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summary
3-hydroxy-3-methylglutaryl-CoA lyase deficiency - Wikipedia ...
3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/3-hydroxy-3-methylglutaryl-CoA_lyase_deficiency
en.wikipedia.org
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summary
Newborn Screening: MedlinePlus
Genetics Home Reference: 3-methylcrotonyl-coenzyme A carboxylase deficiency(National Library of Medicine) ... Home Reference: Beta-ketothiolase deficiency(National Library of ...
http://www.nlm.nih.gov/medlineplus/newbornscreening.html
www.nlm.nih.gov
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summary
Beta-ketothiolase deficiency - Wikipedia, the free encyclopedia
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder ... Beta-ketothiolase deficiency has an autosomal recessive pattern of inheritance. ...
http://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency
en.wikipedia.org
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summary
Levocarnitine IV : Uses, Side Effects, Interactions, Pictures ...
Carnitine Deficiency. Levocarnitine IV may also be used to treat: ... Ketothiolase Deficiency, High Amounts of Glutaric Acid in the Body- Type I, 3 ...
http://www.webmd.com/drugs/drug-20741-Levocarnitine+Intraven...
www.webmd.com
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summary
Fumarase deficiency - Wikipedia, the free encyclopedia
Fumarase deficiency is caused by a mutation in the fumarate hydratase ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Fumarase_deficiency
en.wikipedia.org
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summary
Carnitor Oral : Uses, Side Effects, Interactions, Pictures ...
Carnitine Deficiency. Carnitor Oral may also be used to treat: ... Ketothiolase Deficiency, High Amounts of Glutaric Acid in the Body- Type I, 3 ...
http://www.webmd.com/drugs/drug-4488-Carnitor+Oral.aspx?drug...
www.webmd.com
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summary
Ornithine transcarbamylase deficiency - Wikipedia, the free ...
Mutations in the OTC gene cause ornithine transcarbamylase deficiency. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Ornithine_transcarbamylase_deficiency
en.wikipedia.org
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summary
Succinic semialdehyde dehydrogenase deficiency - Wikipedia ...
Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4 ... as well.[3] SSADH deficiency is caused by an enzyme deficiency in GABA degradation. ...
http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency
en.wikipedia.org
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summary
Tetrahydrobiopterin deficiency - Wikipedia, the free encyclopedia
Tetrahydrobiopterin deficiency also disrupts the levels of certain ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency
en.wikipedia.org
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summary
Carbamoyl phosphate synthetase I deficiency - Wikipedia, the ...
Carbamoyl phosphate synthetase I deficiency is an inherited disorder ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Carbamoyl_phosphate_synthetase_I_deficiency
en.wikipedia.org
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summary
Glutathione synthetase deficiency - Wikipedia, the free ...
Glutathione synthetase deficiency can be classified into three types: ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Glutathione_synthetase_deficiency
en.wikipedia.org
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summary
Ornithine translocase deficiency - Wikipedia, the free ...
Mutations in the SLC25A15 gene cause ornithine translocase deficiency. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency
en.wikipedia.org
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summary
2-Methylbutyryl-CoA dehydrogenase deficiency - Wikipedia, the ...
"2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by ... N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency ...
http://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency
en.wikipedia.org
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summary
Dopamine beta hydroxylase deficiency - Wikipedia, the free ...
A deficiency of norepinephrine and epinephrine that causes orthostatic ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Dopamine_beta_hydroxylase_deficiency
en.wikipedia.org
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summary
Wyeth.com | ADAM
Wyeth pharmaceutical company brings health care products, medicines and vaccines that aim to improve lives and deliver value to customers.
http://wyeth.adam.com/content.aspx?productId=101&pid=1&gid=007257
wyeth.adam.com
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summary
Guanidinoacetate methyltransferase deficiency - Wikipedia ...
Guanidinoacetate methyltransferase deficiency is a very rare disorder. ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency
en.wikipedia.org
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summary
N-Acetylglutamate synthase deficiency - Wikipedia, the free ...
Deficiency in N-Acetyl Glutamate Synthase or a genetic mutation in ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/N-Acetylglutamate_synthase_deficiency
en.wikipedia.org
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summary
Newborn screening tests
Glucose-6-phosphate dehydrogenase deficiency (G6PD) Human immunodeficiency ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Beta ketothiolase ...
http://adam.about.com/encyclopedia/Newborn-screening-tests.htm
adam.about.com
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summary
3-Ketothiolase deficiency(Deficiency of acetyl-CoA ...
Search Term: 3-Ketothiolase deficiency (disease: Deficiency of acetyl-CoA ... No NextBio groups were found for "3-Ketothiolase deficiency". Be the first to start a ...
http://www.nextbio.com/b/search/ov/3-Ketothiolase%20deficiency?type=DISEASE
www.nextbio.com
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summary
Prolidase deficiency - Wikipedia, the free encyclopedia
Prolidase deficiency is a rare autosomal recessive[1] inborn error of metabolism.[2][3]:541 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Prolidase_deficiency
en.wikipedia.org
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summary
Isobutyryl-coenzyme A dehydrogenase deficiency - Wikipedia ...
Isobutyryl-CoA dehydrogenase deficiency may be worsened by long ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Isobutyryl-coenzyme_A_dehydrogenase_deficiency
en.wikipedia.org
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summary
3-ketothiolase deficiency(Deficiency of acetyl-CoA ...
Search Term: 3-ketothiolase deficiency (disease: Deficiency of acetyl-CoA ... No NextBio groups were found for "3-ketothiolase deficiency". Be the first to start a ...
http://www.nextbio.com/b/search/ov/3-ketothiolase%20deficiency
www.nextbio.com
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summary
PROPIONIC ACIDEMIA - Pedbase.org
... acidemia, isovaleric acidemia, and beta-ketothiolase deficiency ... deficiency on assay. 2. Education. diagnosis, definition, epidemiology, treatment options, prognosis. 3. Goals ...
http://www.pedbase.org/p/propionic-acidemia/
www.pedbase.org
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summary
6-Pyruvoyltetrahydropterin synthase deficiency - Wikipedia ...
6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency
en.wikipedia.org
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summary
Acetyl L-Carnitine Oral : User Ratings covering uses ...
Find user ratings and reviews for Acetyl L-Carnitine Oral on - WebMD including side effects and drug interactions, medication effectiveness, ease of use and satisfaction
http://www.webmd.com/drugs/drugreview-91508-Acetyl+L-Carniti...
www.webmd.com
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summary
Author - NextBio
Deficiency of beta-ketothiolase (beta-KT, also known as T2, mitocho... 3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that ...
http://www.nextbio.com/b/search/author/Stanley%20H%20Korman
www.nextbio.com
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summary
Files Previously Added, Updated, or Revised
New Topic on Genetics Home Reference: Beta-ketothiolase deficiency (05/23/05) ... long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (03/01 ...
http://www.nlm.nih.gov/news/new_files2005.html
www.nlm.nih.gov
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summary
Glutaric aciduria type 1 - Wikipedia, the free encyclopedia
This enzyme deficiency allows glutaric acid, 3-hydroxyglutaric acid ... Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Glutaric_acidemia_type_1
en.wikipedia.org
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summary
Carnitor IV : User Ratings covering uses, effectiveness ...
Find user ratings and reviews for Carnitor IV on - WebMD including side effects and drug interactions, medication effectiveness, ease of use and satisfaction
http://www.webmd.com/drugs/drugreview-4487-Carnitor+IV.aspx?...
www.webmd.com
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summary
Argininemia - Wikipedia, the free encyclopedia
The accumulation of guanidino metabolites also contribute to the neurotoxicity of the disease.[3] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Argininemia
en.wikipedia.org
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summary
Homocystinuria - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Homocystinuria
en.wikipedia.org
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summary
Ochronosis - Wikipedia, the free encyclopedia
The face, skeletal system, cardiovascular system,[3] respiratory system, urinary system and to a lesser ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Ochronosis
en.wikipedia.org
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summary
Cystinosis - Wikipedia, the free encyclopedia
Symptoms are first seen at about 3 to 18 months of age with profound polyuria ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Cystinosis
en.wikipedia.org
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summary
D-Glyceric acidemia - Wikipedia, the free encyclopedia
A short Wikipedia article on NKH. ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/D-Glyceric_acidemia
en.wikipedia.org
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summary
Methylmalonic acidemia - Wikipedia, the free encyclopedia
Methylmalonic acidemia stems from several genotypes,[3] all forms of the disorder usually diagnosed in the ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Methylmalonic_acidemia
en.wikipedia.org
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summary
Inside:
1?3 ). However, using MS/MS in newborn screening programs is new, and scientific data ... cate both MCAD deficiency and multiple acyl-CoA dehydrogenase deficiency) ...
http://www.cdc.gov/mmwr/PDF/rr/rr5003.pdf
www.cdc.gov
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summary
Cystinuria - Wikipedia, the free encyclopedia
Alkalinization of urine can help reduce stone formation.[3][4] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Cystinuria
en.wikipedia.org
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summary
Hartnup disease - Wikipedia, the free encyclopedia
Most symptoms occur sporadically and are caused by a deficiency of niacinamide. ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Hartnup_disease
en.wikipedia.org
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summary
Inborn error of metabolism - Wikipedia, the free encyclopedia
PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6 ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Inborn_error_of_metabolism
en.wikipedia.org
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summary
Maple syrup urine disease - Wikipedia, the free encyclopedia
MSUD is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Maple_syrup_urine_disease
en.wikipedia.org
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summary
Newborn screening - Wikipedia, the free encyclopedia
G6PD Deficiency - is an X-linked recessive hereditary disease characterized by abnormally ... 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000 ...
http://en.wikipedia.org/wiki/Newborn_screening
en.wikipedia.org
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summary
Phenylketonuria - Wikipedia, the free encyclopedia
PAH deficiency causes a spectrum of disorders including classic ... acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA ...
http://en.wikipedia.org/wiki/Phenylketonuria
en.wikipedia.org
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summary
Propionic acidemia - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Propionic_acidemia
en.wikipedia.org
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summary
Waardenburg syndrome - Wikipedia, the free encyclopedia
Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome.[3] ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase ...
http://en.wikipedia.org/wiki/Waardenburg_syndrome
en.wikipedia.org
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summary
Albinism - Wikipedia, the free encyclopedia
Hyperlinked article discussing genetics, culture, visual problems, pigmentation, and albinism in non-humans.
http://en.wikipedia.org/wiki/Albinism
en.wikipedia.org
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summary
Hypermethioninemia - Wikipedia, the free encyclopedia
A deficiency of any of these enzymes results in a buildup of methionine in the ... · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency ...
http://en.wikipedia.org/wiki/Hypermethioninemia
en.wikipedia.org
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summary
Isovaleric acidemia - Wikipedia, the free encyclopedia
... · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3 ... Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency. Methionine ...
http://en.wikipedia.org/wiki/Isovaleric_acidemia
en.wikipedia.org
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summary
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