JOURNAL OF INHERITED METABOLIC DISEASE
ISSN:0141-8955

JOURNAL OF INHERITED METABOLIC DISEASE

遗传代谢疾病杂志
J INHERIT METAB DIS
学科领域:医学
是否预警:不在预警名单内
是否OA:
录用周期:偏慢,4-8周
新锐分区:医学3区
年发文量:108
影响因子:3.8
JCR分区:Q2

基本信息

遗传代谢疾病杂志《遗传性代谢疾病杂志》(JIMD)是美国先天性代谢缺陷研究学会(SSIEM)的官方杂志。通过加强世界各地该领域工作者之间的沟通,JIMD旨在改善对遗传性代谢障碍的管理和理解。它发表原始研究结果和新的或重要的观察有关的任何方面的遗传代谢疾病在人类和高等动物。这包括临床(医学、牙科和兽医)、生物化学、遗传学(包括细胞遗传学、分子和群体遗传学)、实验(包括细胞生物学)、方法学、理论、流行病学、伦理和咨询等方面。JIMD还审查与代谢紊乱相关的重要新进展或有争议的问题,并发表该学会年度专题讨论会的评论和简短报告。同行评审的科学材料因其对该领域其他专业人员的重要性而被选中,而非同行评审的材料旨在成为重要的、有争议的、有趣的或娱乐性的材料(“额外材料”)。
0141-8955SCIE/Scopus收录
3.8
3.5
2026年3月发布
点击查看历史分区趋势    >
大类学科小类学科Top期刊综述期刊
医学3区
ENDOCRINOLOGY & METABOLISM 内分泌学与代谢
3区
GENETICS & HEREDITY 遗传学
2区
MEDICINE, RESEARCH & EXPERIMENTAL 医学:研究与实验
3区
N/A
WOS期刊SCI分区  2024-2025最新升级版
按JIF指标学科分区收集子录JIF分区JIF排名百分位
学科:ENDOCRINOLOGY & METABOLISM
SCIE
Q2
60/193
学科:GENETICS & HEREDITY
SCIE
Q2
49/192
学科:MEDICINE, RESEARCH & EXPERIMENTAL
SCIE
Q2
66/195
按JCR指标学科分区收集子录JCR分区JCR排名百分位
学科:ENDOCRINOLOGY & METABOLISM
SCIE
Q1
40/193
学科:GENETICS & HEREDITY
SCIE
Q1
42/192
学科:MEDICINE, RESEARCH & EXPERIMENTAL
SCIE
Q1
46/195
91
108
0%一般偏慢,4-8周-医学-内分泌学与代谢
10.5%
时间预警情况
2026年03月发布的新锐学术版不在预警名单中
2025年03月发布的2025版不在预警名单中
2024年02月发布的2024版不在预警名单中
2023年01月发布的2023版不在预警名单中
2021年12月发布的2021版不在预警名单中
2020年12月发布的2020版不在预警名单中
85.19%52.05%2.31%
CiteScore:9.20
SJR:1.234
SNIP:1.689
学科类别分区排名百分位
大类:Medicine
小类:Genetics (clinical)
Q1
10 / 100
大类:Medicine
小类:Genetics
Q1
47 / 348

期刊高被引文献

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12024
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12080
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12109
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12055
Synaptic energy metabolism and neuronal excitability, in sickness and health
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12071
The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12130
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12125
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12128
Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12091
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12010
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12066
Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12138
Bone development and remodeling in metabolic disorders
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12097
Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12033
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12163
Choline‐related‐inherited metabolic diseases—A mini review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12011
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12183
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12072
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine‐dependent epilepsy
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12184
Increased risk of sudden death in untreated primary carnitine deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12158
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12149
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12048
Liver neoplasms in methylmalonic aciduria: An emerging complication
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12143
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12172
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12085
The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12207
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12159
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12206
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12107
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12132
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12200
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12203
Early neurodevelopmental characterization in children with cobalamin C/defect
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12171
Central nervous system complications in adult cystinosis patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12164
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12086
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12182
AAV9 gene replacement therapy for respiratory insufficiency in very‐long chain acyl‐CoA dehydrogenase deficiency
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12101
Galactose 1‐phosphate accumulates to high levels in galactose‐treated cells due to low GALT activity and absence of product inhibition of GALK
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12198
Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12098
Inborn errors of enzymes in glutamate metabolism
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12180
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12036
A high prevalence of arterial hypertension in patients with mitochondrial diseases
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12195
Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12161
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12068
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12081
Allogeneic hematopoietic cell transplantation in Farber disease
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12043
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12160
The effectiveness of enzyme replacement therapy for juvenile‐onset Pompe disease: A systematic review
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12027
GLUT1DS and the ketogenic diet.
来源期刊:Journal of inherited metabolic diseaseDOI:10.1002/jimd.12175
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature
来源期刊:Journal of Inherited Metabolic DiseaseDOI:10.1002/jimd.12146

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