ISSN: 0141-8955

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Journal of Inherited Metabolic Disease Q1 Unclaimed

Springer Netherlands Netherlands

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Journal of Inherited Metabolic Disease is a journal indexed in SJR in Genetics and Genetics (clinical) with an H index of 114. It has a price of 2500 €. It has an SJR impact factor of 1,459 and it has a best quartile of Q1. It is published in English. It has an SJR impact factor of 1,459.

Journal of Inherited Metabolic Disease focuses its scope in these topics and keywords: mitochondrial, clinical, errors, diagnosis, disorders, dehydrogenase, molecular, screening, defectsneonatal, disease, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -

Categories: Genetics (Q1) Genetics (clinical) (Q1) Genetics (clinical) (Q1)

Price

2500 €

Inmediate OA

NPD

Embargoed OA

0 €

Non OA

Metrics

1,459

SJR Impact factor

114

H Index

110

Total Docs (Last Year)

371

Total Docs (3 years)

4608

Total Refs

1667

Total Cites (3 years)

338

Citable Docs (3 years)

4.09

Cites/Doc (2 years)

41.89

Ref/Doc

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Aims and Scope

Best articles by citations

The prediction of the therapeutic response to cholesterol lowering drugs in an 11-year-old boy with homozygous familial hypercholesterolaemia

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

Magnetic resonance spectroscopy in the recognition of metabolic disease

Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy

Iron and haemochromatosis

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

Energy expenditure in patients with propionic and methylmalonic acidaemias

CDG IIx with unusual phenotype

Determination of manganese in serum: Normal value and physiological variations

Dihydropteridine reductase deficiency in an 18-year-old boy

Dihydropyrimidine dehydrogenase deficiency - A further case

Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

SHOW MORE ARTICLES

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

Mild variant of argininosuccinic aciduria

Some nutritional aspects of trace metals

Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy

Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

Diagnosis of type 1B and 1C glycogen storage disease

Hepatic glycogenosis with defects in the glycogen breakdown pathway: Urinary oligosaccharide profile

Disturbed metabolism of copper and zinc in aspartylglycosaminuria: Possible involvement with connective tissue changes

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Acrodermatitis enteropathica

Newborn screening for cystic fibrosis: Science, legislation, and human values