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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/07 02:47:41」(JST)

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1. 先天性代謝異常：分類 inborn errors of metabolism classification
2. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
3. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
4. Causes of hypoglycemia in infants and children
5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability, and diagnostics.

Haenisch B, Nöthen MM, Molderings GJ.SourceInstitute of Human Genetics, University Hospital of Bonn, Germany.
Immunology.Immunology.2012 Sep 7. doi: 10.1111/j.1365-2567.2012.03627.x. [Epub ahead of print]
Despite increasing understanding of its pathophysiology, the etiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyr
PMID 22957768

Das AM, Franke A, Drache S, Janzen N.AbstractABSTRACT:
BMC gastroenterology.BMC Gastroenterol.2012 Aug 30;12(1):119. [Epub ahead of print]
ABSTRACT:BACKGROUND: MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as w
PMID 22935320

Omalizumab Treatment of Systemic Mast Cell Activation Disease: Experiences from Four Cases

Molderings Gerhard J.,Raithel Martin,Kratz Felix,Azemar Marc,Haenisch Britta,Harzer Sabrina,Homann Jürgen
Internal Medicine 50(6), 611-615, 2011
… We report on the outcome of 4 patients with therapy-resistant systemic mast cell activation disease (MCAD) treated with the anti-IgE monoclonal antibody omalizumab in compassionate use. … In conclusion, omalizumab can lessen the intensity of the symptoms of systemic MCAD. … Hence, omalizumab should be considered as a therapeutic option in cases of systemic MCAD that are resistant to evidence-based therapy. …
NAID 130000649895

Purification and Gene Cloning of an Enantioselective Thioesterification Enzyme from Brevibacterium ketoglutamicum KU1073, a Deracemization Bacterium of 2-(4-Chlorophenoxy)propanoic Acid

KATO Dai-ichiro,YOSHIDA Hiromitsu,TAKEO Masahiro,NEGORO Seiji,OHTA Hiromichi
Bioscience, biotechnology, and biochemistry 74(12), 2405-2412, 2010-12-23
… We succeeded in the purification and gene cloning of a new enzyme, α-methyl carboxylic acid deracemizing enzyme 1 (MCAD1) from Brevibacterium ketoglutamicum KU1073, which catalyzes the (S)-enantioselective thioesterification reaction of 2-(4-chlorophenoxy)propanoic acid (CPPA). … The cloned gene of MCAD1 contained an ORF of 1,623 bp, encoding a polypeptide of 540 amino acids. … In combination with cofactors ATP, coenzyme A (CoASH), and Mg2+, MCAD1 demonstrated perfect enantioselectivity toward CPPA. …
NAID 10027727906