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Journal of Inherited Metabolic Disease is a peer-reviewed journal published by Springer Nature, covering Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology.
| Publisher | Springer Nature |
|---|---|
| Reference style | Numbered (Springer Basic) Numbered — [1], [2] in the text 1. Smith A, Jones B, Lee C (2023) A representative article title. Journal of Inherited Metabolic Disease 12:45–58
Formats any DOI in Journal of Inherited Metabolic Disease style. No sign-up. |
| Publishes research in | Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Mitochondrial Function and Pathology Amino Acid Enzymes and Metabolism Biochemical and Molecular Research |
| ISSN | 0141-8955 |
| Citation impact (2-yr) | 3.35 |
| h-index | 151 |
| i10-index | 3,964 |
| Total citations | 185,372 |
| Article processing charge | $3,300 |
| Top institutions publishing here | University of Amsterdam |
| Journal website | onlinelibrary.wiley.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Over the years, the mitochondrial fatty acid β-oxidation (FAO) pathway has been characterised at the biochemical level as well as the molecular biological level. FAO plays a pivotal role in energy homoeostasis, but it competes with glucose as the primary oxidative substrate. The mechanisms behind this so-called glucose-fatty acid cycle operate at the hormonal, transcriptional…
The neurons of the central nervous system (CNS) require precise control of their bathing microenvironment for optimal function, and an important element in this control is the blood-brain barrier (BBB). The BBB is formed by the endothelial cells lining the brain microvessels, under the inductive influence of neighbouring cell types within the 'neurovascular unit' (NVU)…
Human mitochondrial (mt) ATP synthase, or complex V consists of two functional domains: F(1), situated in the mitochondrial matrix, and F(o), located in the inner mitochondrial membrane. Complex V uses the energy created by the proton electrochemical gradient to phosphorylate ADP to ATP. This review covers the architecture, function and assembly of complex V. The…
Choline is an essential nutrient, but is also formed by de novo synthesis. Choline and its derivatives serve as components of structural lipoproteins, blood and membrane lipids, and as a precursor of the neurotransmitter acetylcholine. Pre-and postnatal choline availability is important for neurodevelopment in rodents. Choline is oxidized to betaine that serves as an osmoregulator…
Conclusion A method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary results from umbilical cord blood and neonatal blood spotted onto Guthrie cards are encouraging. This method will detect up to at least eight inherited metabolic disorders which exhibit diagnostic acylcarnitine profiles, including medium‐chain acyl‐CoA dehydrogenase deficiency. The speed and…
