Default: Journal of Inherited Metabolic Disease

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: -


2500 €

Inmediate OA


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0 €

Non OA


Journal of Inherited Metabolic Disease


SJR Impact factor


H Index


Total Docs (Last Year)


Total Docs (3 years)


Total Refs


Total Cites (3 years)


Citable Docs (3 years)


Cites/Doc (2 years)




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Aims and Scope

mitochondrial, clinical, errors, diagnosis, disorders, dehydrogenase, molecular, screening, defectsneonatal, disease, diagnostic, diabetes, diversity, drug, deficiency, congenital, chromosomal, cloning, childhood, cdna, cblc, biotinidase, biosynthesis, basis, barth, acid, ascertained, antibodies, anti, advances, adults,

Best articles by citations

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

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

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Magnetic resonance spectroscopy in the recognition of metabolic disease

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

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Iron and haemochromatosis

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

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Energy expenditure in patients with propionic and methylmalonic acidaemias

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CDG IIx with unusual phenotype

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Determination of manganese in serum: Normal value and physiological variations

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Dihydropteridine reductase deficiency in an 18-year-old boy

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Dihydropyrimidine dehydrogenase deficiency - A further case

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Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency

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

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Mild variant of argininosuccinic aciduria

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Some nutritional aspects of trace metals

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

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

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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

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Diagnosis of type 1B and 1C glycogen storage disease

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

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

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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

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Acrodermatitis enteropathica

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

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