Impact Factor
4.16
Journal Citation Impact
Estimated influence, citation density, publishing volume, and citation integrity from the analytics table.
Citation rate
4.45
3,789 total citations
h5-index
62
h5 depth signal
Cited share
87.1%
774 of 889
Total citations
3,789
Citation footprint
Metric signal
4.15
External metric anchor
Self-citation
5.9%
222 self-citations
Citations Trend
Monthly Publications Cadence
Citing Geographic Demographics
China
924
United States
921
United Kingdom
642
Germany
607
France
582
Citing Fields of Research
Lysosomal Storage Disorders
585
Musculoskeletal Disorders
534
Genetics & Genomics
502
Congenital Disorders
484
Cytogenetics
372
Publishing Activity & Reach
Volume, recency, access pattern, and citing-community signals from the journal analytics record.
All-time article footprint
5,524
Articles tracked across the journal lifetime
Indexed publication set
889
774 cited publications
Last 12 months
609
50.8 publications/month
Open access share
100.0%
609 OA publications in the last year
Leading citing country
China
924 citing publications
Leading citing field
Lysosomal Storage Disorders
585 citing publications
Latest tracked publication
20 October 2026
10 recent records available
Coverage & Indexing History
v1n1, Mar. 1, 2006-
v1n1, Mar. 1, 2006-
Active Coverage
Research Focus & Classification
Indexed Subjects
Lysosomal Storage Disorders
Musculoskeletal Disorders
Genetics & Genomics
Hematology
Auto-Inflammatory Disorders
Congenital Disorders
Cytogenetics
Broad Categories
Medicine
Lysosomal Storage Disorders
Mitochondria
Medical Ethics
Musculoskeletal Disorders
Cytogenetics
Hematology
Cell Differentiation & Development
MeSH Descriptors
Orphan Drug Production
Rare Diseases
Latest Publications
Recent article records with DOI-first linking and condensed abstracts.
01
DOI 10.1186/s13023-026-04576-z
Open DOI
Effect of tafamidis treatment on echocardiographic measures of heart structure and function in Chinese patients with transthyretin amyloid cardiomyopathy
Background: A multicenter, open-label, post-approval commitment study previously demonstrated the safety and efficacy of tafamidis in Chinese patients with transthyretin amyloid cardiomyopathy (ATTR-CM). This post hoc analysis evaluated ...
02
DOI 10.1186/s13023-026-04651-5
Open DOI
Consistent unmet needs and fragmented care in rett syndrome: insights from a multi-country European caregiver study
Background: Rett syndrome is a rare neurodevelopmental disorder associated with functional impairments that emerge in early childhood and persist throughout life. Despite improved understanding of its genetic basis and natural history, t...
03
DOI 10.1186/s13023-026-04653-3
Open DOI
Autonomic dysfunction profiling of Malan syndrome using Pediatric Autonomic Symptom Scales
Background: The autonomic nervous system (ANS) is essential for body homeostasis, and its dysfunction, defined as dysautonomia, is increasingly recognized as a contributor to disease burden in neurodevelopmental/psychiatric disorders (NP...
04
DOI 10.1186/s13023-026-04640-8
Open DOI
Expert guidance on X-linked hypophosphatemia in adults and adolescents in the Gulf region
Background: X-linked hypophosphatemia (XLH) is a rare inherited metabolic bone disorder, with lifelong effects on skeletal health, function, and quality of life. In the Gulf Cooperation Council (GCC) region, differing healthcare systems ...
05
DOI 10.1186/s13023-026-04660-4
Open DOI
Diffuse bronchiolitis and atelectasis as early features of primary ciliary dyskinesia in children: a genotype–phenotype study
Background: Diffuse bronchiolitis and atelectasis are recognised clinical features of primary ciliary dyskinesia (PCD). This study aimed to investigate the occurrence and temporal trajectories of these features in 34 children with PCD, s...
06
DOI 10.1186/s13023-026-04639-1
Open DOI
Neurocognitive and neuroradiological findings and their association in a Spanish Pediatric cohort with glutaric aciduria type 1
Background: This study aimed to characterize the neurocognitive and neuroradiological profiles of children and young adults with Glutaric Aciduria Type 1 (GA-1) included in the Spanish National GA-1 Registry and to examine the associatio...
07
DOI 10.1186/s13023-026-04644-4
Open DOI
Post-treatment analysis of plasma transthyretin concentration as a diagnostic and prognostic biomarker in patients with transthyretin cardiac amyloidosis treated with tafamidis
Background: Transthyretin (TTR) cardiac amyloidosis (ATTR-CA) is an underdiagnosed cause of heart failure, resulting from the deposition of misfolded TTR in the myocardium. We investigated the diagnostic and prognostic value of circulati...
08
DOI 10.1186/s13023-026-04658-y
Open DOI
Hyperhomocysteinemia in late-onset MADD: high prevalence and exacerbation of lipid deposition
Background: Hyperhomocysteinemia (HHcy) is common in patients with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD), but its role in disease progression remains unclear. This study aimed to investigate the prevalence of HHcy ...
09
DOI 10.1186/s13023-026-04570-5
Open DOI
Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases
Background: Caregiving for children with rare diseases is associated with substantial psychosocial and practical burden, yet evidence on associated factors of caregiver burden across heterogeneous rare disease populations remains limited...
10
DOI 10.1186/s13023-026-04655-1
Open DOI
A novel ATP7A splice‑site variant with suspected maternal gonadal mosaicism in Menkes disease: functional validation and prenatal diagnosis
Menkes disease (MIM#309400) is a rare, fatal X-linked neurodegenerative disorder caused by ATP7A mutations. Delayed diagnosis due to clinical heterogeneity and limited data on mutational spectrum and reproductive risk remain challenges, ...
Bibliographical & Catalog Notes
Title from PDF caption (publisher's Web site, viewed Mar. 17, 2006).
Latest issue consulted: 1:4 (13 Mar. 2006) (viewed Mar. 17, 2006).
Articles added consecutively to current annual v.
Mode of access: Internet.