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1. 選択的IgE欠損症 selective ige deficiency
2. 選択的IgA欠損症：管理および予後 selective iga deficiency management and prognosis
3. 稀な（劣性遺伝性）凝固異常 rare recessively inherited coagulation disorders
4. アンチトロンビン（ATIII）欠乏症 antithrombin atiii deficiency
5. ビタミンB12および葉酸欠乏症の病因および臨床症状 etiology and clinical manifestations of vitamin b12 and folic acid deficiency

Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.

Diekman EF1, van Weeghel M2, Wanders RJ3, Visser G4, Houten SM5.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.FASEB J.2014 Jul;28(7):2891-900. doi: 10.1096/fj.14-250241. Epub 2014 Mar 19.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited disorder of mitochondrial long-chain fatty acid β-oxidation (FAO). Patients with VLCAD deficiency may present with hypoglycemia, hepatomegaly, cardiomyopathy, and myopathy. Although several mouse models have been developed to
PMID 24648546

Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.

Goetzman ES1, Alcorn JF, Bharathi SS, Uppala R, McHugh KJ, Kosmider B, Chen R, Zuo YY, Beck ME, McKinney RW, Skilling H, Suhrie KR, Karunanidhi A, Yeasted R, Otsubo C, Ellis B, Tyurina YY, Kagan VE, Mallampalli RK, Vockley J.
The Journal of biological chemistry.J Biol Chem.2014 Apr 11;289(15):10668-79. doi: 10.1074/jbc.M113.540260. Epub 2014 Mar 3.
Long-chain acyl-CoA dehydrogenase (LCAD) is a mitochondrial fatty acid oxidation enzyme whose expression in humans is low or absent in organs known to utilize fatty acids for energy such as heart, muscle, and liver. This study demonstrates localization of LCAD to human alveolar type II pneumocytes,
PMID 24591516

L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders.

Ribas GS1, Vargas CR, Wajner M.
Gene.Gene.2014 Jan 10;533(2):469-76. doi: 10.1016/j.gene.2013.10.017. Epub 2013 Oct 19.
In recent years increasing evidence has emerged suggesting that oxidative stress is involved in the pathophysiology of a number of inherited metabolic disorders. However the clinical use of classical antioxidants in these diseases has been poorly evaluated and so far no benefit has been demonstrated
PMID 24148561