JOURNAL OF INHERITED METABOLIC DISEASE
Scope & Guideline
Exploring Genetic Pathways to Health
Introduction
Aims and Scopes
- Inherited Metabolic Disorders:
The journal covers a broad range of inherited metabolic diseases, including but not limited to urea cycle disorders, lysosomal storage diseases, and fatty acid oxidation disorders. - Clinical Research and Trials:
It emphasizes clinical studies and trials aimed at evaluating new treatments, therapies, and diagnostic methods for patients with inherited metabolic diseases. - Biochemical and Genetic Analysis:
Research articles often focus on biochemical pathways, genetic mutations, and their implications for disease phenotype and management. - Newborn Screening and Early Diagnosis:
The journal highlights advancements in newborn screening techniques and their impact on early diagnosis and intervention strategies. - Patient-Centered Research:
There is a strong focus on the psychosocial aspects of living with inherited metabolic disorders, including quality of life, caregiving challenges, and patient-reported outcomes.
Trending and Emerging
- Gene Therapy and Genetic Interventions:
There is a significant surge in research focused on gene therapy as a potential treatment for various inherited metabolic disorders, showcasing promising advancements in this area. - Precision Medicine and Personalized Treatment:
Emerging studies are increasingly focusing on precision medicine approaches, tailoring treatments based on individual genetic and biochemical profiles. - Metabolomics and Biomarker Discovery:
Research in metabolomics is on the rise, aiming to identify novel biomarkers that can aid in the diagnosis and monitoring of metabolic diseases. - Patient-Centric Approaches:
A growing trend towards incorporating patient perspectives and experiences in research design and outcomes assessment is evident, emphasizing the importance of patient-reported outcomes. - Newborn Screening Innovations:
Recent publications highlight innovations in newborn screening methodologies, indicating a shift towards more comprehensive and effective early detection strategies.
Declining or Waning
- Traditional Biochemical Methods:
There is a noticeable decline in the publication of studies relying solely on traditional biochemical assays for diagnosis, as newer genomic and metabolomic approaches gain prominence. - Animal Models for Basic Research:
Research focused on animal models for understanding metabolic diseases has decreased, possibly due to a shift toward more translational and clinical research. - Historical Perspectives on Disorders:
Papers providing historical context or retrospective analyses of inherited metabolic diseases are less frequent, indicating a move towards contemporary and forward-looking studies. - General Reviews of Inherited Disorders:
The journal has seen fewer general review articles on inherited metabolic disorders, as the focus shifts to specific case studies and novel therapeutic approaches. - Epidemiological Studies:
There has been a noticeable reduction in the frequency of purely epidemiological studies, as more emphasis is placed on clinical outcomes and intervention trials.
Similar Journals
JOURNAL OF HUMAN GENETICS
Advancing Knowledge in Genetic ResearchWelcome to the Journal of Human Genetics, a premier publication in the field of human genetics, published by SpringerNature. With a commitment to sharing groundbreaking research, this journal has been at the forefront of genetic studies since its establishment in 1961, converging its focus in 1996 and continuing to evolve through 2024. It holds a respected Q2 ranking in both the Genetics and Clinical Genetics categories, reflecting its significant contribution to the scientific community. With a notable Scopus ranking of 23rd out of 99 in Clinical Genetics and 95th out of 347 in Genetics, the journal offers a platform for high-impact research that informs clinical practices and advances the understanding of genetic disorders. Operating under an open-access model, it ensures that findings are readily accessible to researchers, professionals, and students worldwide. Join us in exploring the complexities of human genetics and contribute to the ongoing discourse in this dynamic field.
ACTA BIOCHIMICA POLONICA
Exploring the Frontiers of Biochemical KnowledgeACTA BIOCHIMICA POLONICA (ISSN: 0001-527X, E-ISSN: 1734-154X) is a distinguished journal published by the ACTA BIOCHIMICA POLONICA in Poland, with a rich history dating back to 1955. As a prominent platform for disseminating research, it currently holds a Category Quartile of Q3 in the fields of Biochemistry, Genetics, and Molecular Biology, reflecting its commitment to advancing knowledge in these critical areas. This journal is indexed in Scopus, ranking 124 out of 221, placing it in the 44th percentile among general biochemistry, genetics, and molecular biology journals. Although it does not operate under an open-access model, ACTA BIOCHIMICA POLONICA remains a vital resource for researchers, professionals, and students seeking to delve into the latest developments and discoveries in biochemistry and molecular biology. Its strategic focus on contemporary topics ensures that it plays an essential role in shaping future scientific inquiries and fostering collaboration across various disciplines.
GYNECOLOGICAL ENDOCRINOLOGY
Unlocking New Horizons in Gynecological ScienceGYNECOLOGICAL ENDOCRINOLOGY is a prestigious open-access journal published by Taylor & Francis Ltd, focusing on the dynamic fields of endocrinology, obstetrics, and gynecology. With its ISSN of 0951-3590 and E-ISSN of 1473-0766, this journal provides a vital platform for the dissemination of high-quality research and advancements in gynecological endocrinology since its inception in 1987. Notably, it attained an Open Access status in 2023, enhancing its reach and accessibility to researchers and practitioners worldwide. The journal is renowned for its rigorous peer-review process and holds significant standing with a Q2 ranking in Obstetrics and Gynecology and a Q3 ranking in Endocrinology, Diabetes, and Metabolism, as of 2023. It is indexed with commendable Scopus ranks in various medical domains, offering a reliable resource for current methodologies and future directions in gynecological health. With the growing emphasis on women's health and endocrinological research, GYNECOLOGICAL ENDOCRINOLOGY serves as an essential repository for innovative studies, clinical insights, and emerging therapeutic strategies, making it an invaluable resource for researchers, clinicians, and students alike.
MOLECULAR GENETICS AND METABOLISM
Exploring the Nexus of Genetics and Metabolic ScienceMOLECULAR GENETICS AND METABOLISM, published by Academic Press Inc Elsevier Science, is a distinguished journal that has been at the forefront of advancing research since its inception in 1998. This journal, boasting both ISSN 1096-7192 and E-ISSN 1096-7206, focuses on the intricate interplay between molecular genetics and metabolic processes, making it an invaluable resource for researchers in the fields of biochemistry, endocrinology, and genetics. Recognized for its impact, it ranks in the Q1 and Q2 quartiles across multiple categories in the latest rankings, enhancing its reputation amongst scholars and professionals. With a commitment to disseminating cutting-edge research, it encourages innovative studies and comprehensive reviews that contribute to our understanding of gene function and metabolism. Open access options provide unrestricted access to its significant findings, further solidifying its role as a leading platform for scientific discourse. As it continues to thrive in the academic community, MOLECULAR GENETICS AND METABOLISM serves as a catalyst for novel insights and advancements in molecular biology.
Boletin de Pediatria
Empowering Pediatric Care Through Rigorous ResearchBoletin de Pediatria is a distinguished journal dedicated to the field of pediatric medicine, serving as a valuable resource for researchers, clinicians, and students alike. Published by EDICIONES ERGON SA, this journal is committed to advancing the knowledge and practice of pediatric healthcare. With its ISSN 0214-2597 and E-ISSN 2340-5384, it strives to disseminate high-quality, peer-reviewed research that addresses the latest advancements and best practices in pediatrics. Although specific impact factor data is not currently available, the journal's rigorous publication standards maintain its reputation within the scientific community. Notably, while Boletin de Pediatria is not an open-access journal, it provides digital access options that ensure the wide distribution of critical pediatric research. With a commitment to improving child health outcomes, this journal plays an essential role in fostering innovation and collaboration among pediatric healthcare professionals globally.
Zaporozhye Medical Journal
Bridging local insights with global medical advancements.Zaporozhye Medical Journal is a dynamic open-access journal published by Zaporozhya State Medical University, dedicated to the advancement of medical knowledge and practice. Since its inception in 2013, it has served as a pivotal platform for researchers, professionals, and students in the medical field, facilitating the dissemination of original research, reviews, and clinical studies that address critical health issues relevant both locally and globally. With an ISSN of 2306-4145 and E-ISSN of 2310-1210, the journal aims to promote scientific dialogue and collaboration among the medical community. As it continues to grow in importance, Zaporozhye Medical Journal invites contributions that foster innovation and excellence in medical research, ensuring accessibility to high-quality information for all readers. Based in Zaporizhzhya, Ukraine, the journal not only emphasizes regional health concerns but also aspires to make significant contributions to the broader medical landscape.
PTERIDINES
Unlocking the Secrets of Pteridines in Health and DiseasePTERIDINES is a unique journal dedicated to the study of pteridines and their implications in biochemistry and clinical research. Published by DE GRUYTER POLAND SP Z O O, this Open Access journal has been a vital resource since its inception in 1989, steadily evolving to include a diverse range of topics pertinent to molecular medicine and biochemistry. With its current classification in the Q4 quartile for Biochemistry, Clinical Biochemistry, and Molecular Medicine, PTERIDINES offers a platform for researchers and professionals seeking to disseminate and access groundbreaking findings. Although the journal has a modest Scopus ranking, it serves as an important outlet for both emerging and established scholars in the field, particularly those focusing on the biochemical roles of pteridines. Based in Germany, the journal invites contributions from around the globe, providing equitable access to all readers since 2018, making significant strides towards inclusive scientific discourse. As such, PTERIDINES is a valuable asset for anyone engaged in the exploration of pteridines and their multifaceted roles in health and disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Bridging Research and Clinical Applications in Genetics.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS is a premier peer-reviewed journal published by Wiley, focusing on the intricate and evolving field of medical genetics. With its ISSN 1552-4868 and E-ISSN 1552-4876, the journal has established itself as a significant resource for researchers, professionals, and students alike, addressing cutting-edge developments in genetic research and clinical practice. Ranked in the top quartile (Q2) in both Genetics and clinical Genetics categories for 2023, it maintains an impressive Scopus ranking, positioning it within the 75th and 71st percentiles for Medicine and Genetics respectively. The journal encourages open access to its content, promoting wider dissemination of knowledge and fostering collaboration among medical genetics experts. From its inaugural issues in 1980 to its ongoing publications, the journal aims to bridge the gap between genetics research and its clinical applications, providing insights that reflect the latest advancements in the field. As it continues to serve the global medical community, the AMERICAN JOURNAL OF MEDICAL GENETICS PART C remains a vital source for those seeking to understand the complexities of genetic disorders and their implications for health and disease.
Indonesian Biomedical Journal
Shaping Tomorrow's Medicine Through Rigorous ResearchIndonesian Biomedical Journal, published by PRODIA EDUCATION & RESEARCH INST, serves as a vital platform for the dissemination of groundbreaking research in the fields of biochemistry, genetics, and molecular biology, as well as general medicine. Since its inception, this Open Access journal has made significant strides in enhancing accessibility to scientific knowledge, allowing researchers, professionals, and students to engage with high-quality studies without financial barriers. With an ISSN of 2355-9179 and a focus on emerging biomedical topics, the journal has established itself in the academic community, securing Q3 and Q4 rankings in its respective categories for 2023. The journal's commitment to maintaining a rigorous peer-review process ensures that only the most innovative and impactful research is published, fostering an environment that encourages collaborative learning and discovery. As it converges from 2017 to 2024, the Indonesian Biomedical Journal continues to be an essential resource for those involved in advancing biomedical sciences, particularly within the unique context of Indonesia and beyond.
INTERNATIONAL JOURNAL OF HUMAN GENETICS
Cultivating Knowledge in Genetics and BeyondINTERNATIONAL JOURNAL OF HUMAN GENETICS is a distinguished publication dedicated to advancing knowledge in the fields of genetics and molecular biology. Published by KAMLA-RAJ ENTERPRISES, this journal explores critical developments and research findings from 2008 to 2016, though its coverage in Scopus has since been discontinued. With an ISSN of 0972-3757 and an E-ISSN of 2456-6330, the journal aimed to foster scholarly dialogue and serve as a resource for researchers, professionals, and students engaged in human genetics. While the journal holds a modest ranking in categories such as Biochemistry and Genetics, it remains a vital source for exploring niche topics within the realm of human genetics. Researchers interested in genetic screening, gene therapy, and clinical genetics will find valuable insights herein. Despite its pause in indexing, the journal continues to contribute to the academic discourse by disseminating critical research that bridges gaps in understanding human genetics.