All fields · Clinical Biochemistry
JournalQ1· SCImago 2025
Orphanet Journal of Rare Diseases
ISSN 1750-1172
- Q1Quartile
- 1.00SJR
- 150h-index
- 10papers summarised
About this journal
Orphanet Journal of Rare Diseases is a Q1 journal by SCImago Journal Rank (2025 data), with an SJR of 1.00 and an h-index of 150. Most of its papers in the Pofolia pool fall under Clinical Biochemistry. Pofolia holds AI summaries of 10 paper(s) from this journal; the most cited is “Urinary mevalonate excretion: a specific and sensitive screening test for mevalonate…” (0 citations).
The quartile (Q1–Q4) is the journal's percentile position within its subject area by SCImago Journal Rank; Q1 is the top 25%. What is a Q1 journal? · What is the h-index?
Most-cited papers in Clinical Biochemistry →
Papers we summarise from this journal
- Urinary mevalonate excretion: a specific and sensitive screening test for mevalonate kinase deficiency2026 · 0 citations
- Post-marketing vascular ectasia and regional bleeding reports with sotatercept in pulmonary arterial hypertension: a disease-restricted active-comparator pharmacovigilance study2026 · 0 citations
- Three novel ACAD8 variants in newborn-screening-positive Chinese individuals with suspected isobutyryl-CoA dehydrogenase deficiency: six genetically characterized cases and one biochemically suspected case2026 · 0 citations
- Trial-related informational needs and decision-making in the SMA community after broad treatment access: results of the 2nd Cure SMA clinical trial experience survey2026 · 0 citations
- Long-term carglumic acid therapy in adult siblings with methylmalonic acidemia and advanced chronic kidney disease2026 · 0 citations
- Preliminary metabolomic and genomic exploration with gene-expression validation in multiple symmetric lipomatosis2026 · 0 citations
- Clinical, biochemical and genetic spectra of carnosinemia: a systematic review of case reports and case series2026 · 0 citations
- 3-O-methyldopa profiling in aromatic L-amino-acid decarboxylase deficiency: from diagnosis to follow-up under gene therapy using dried blood spots LC-MS/MS2026 · 0 citations
- Clinical characteristics, treatments and outcomes of patients with ornithine transcarbamylase deficiency (OTCD): a retrospective cohort study using a US electronic health record database2026 · 0 citations
- Real-world clinical use of large neutral amino acids in phenylketonuria: a nationwide survey from Turkey under reimbursement constraints2026 · 0 citations
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|---|---|---|---|
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| Redox Biology | Q1 | 4.00 | 1 |
| Nature Communications | Q1 | 4.00 | 1 |
| Molecular Biomedicine | Q1 | 2.00 | 1 |
| Journal of Pathology | Q1 | 2.00 | 1 |
| Alzheimer's Research and Therapy | Q1 | 2.00 | 1 |
| npj Genomic Medicine | Q1 | 2.00 | 1 |
| International Journal of Molecular Sciences | Q1 | 1.00 | 5 |
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