JOURNAL OF INHERITED METABOLIC DISEASE
JOURNAL OF INHERITED METABOLIC DISEASE(英文缩写 J INHERIT METAB DIS),ISSN 0141-8955,eISSN 1573-2665 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
指标来源：jcr_cas_ifqb
期刊简介
暂无简介。
历年影响因子趋势
| 年份 | 影响因子 | JCR 分区 |
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| - | Q2 | |
| - | Q1 | |
| - | Q1 | |
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JOURNAL OF INHERITED METABOLIC DISEASE 最新收录文献
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Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency.
Cystathionine β-synthase (CBS)-deficient patients develop premature arteriosclerosis and thrombosis leading to a high risk of a vascular event before the age of 30 years. In CBS deficiency the transsu…
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Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.
We report a 24-year-old patient with underlying classical homocystinuria who developed acute neurological deterioration apparently induced by malnutrition secondary to poor compliance with treatment a…
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Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.
Fabry disease is an X linked lysosomal storage disorder resulting from deficiency of α-galactosidase A activity. Although disease manifestations in heterozygous females with Fabry disease have been co…
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Myopathy in Gaucher disease.
Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, throm…
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Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G).
Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not b…
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Amnionless (AMN) mutations in Imerslund-Gräsbeck syndrome may be associated with disturbed vitamin B12 transport into the CNS.
Familial selective vitamin B12 (cobalamin, Cbl) malabsorption (Imerslund-Gräsbeck syndrome, IGS, OMIM 261100) is a group of autosomal recessive disorders characterized by selective malabsorption of Cb…
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Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib.
Glycogen storage disease (GSD) type Ib is a congenital disorder of glycogen metabolism that is associated with neutropenia, neutrophil dysfunction, and an inflammatory bowel disease that mimics a Croh…
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Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.
3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency (3-hydroxy-3-methylglutaric aciduria, 3-HMG) is a rare autosomal recessive inborn error of metabolism involving the final step of leucine degradati…
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Successful treatment of pyridoxine-unresponsive homocystinuria with betaine in pregnancy.
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Portal hypertension in a patient with Hunter disease.
Hepatosplenomegaly is one of the cardinal signs of Hunter disease; however, portal hypertension has not been described. We report portal hypertension in an adult Hunter patient with the attenuated phe…