Genetics and Genomics of Inherited Metabolic Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (5 August 2022) | Viewed by 12191
Special Issue Editors
Interests: hyperparathyroidism; hypophosphatasia; calcium dismetabolism genetic diseases; parathyroid carcinoma; hypophosphatemic rickets
Interests: neonatal diabetes mellitus; type 1 diabetes; celiac disease; thyroid disorders; insulin; Wolfram syndrome; Prader Villino syndrome
Special Issues, Collections and Topics in MDPI journals
Interests: biochemical markers; osteoporosis; hyperparathyroidism; bone metabolism; parathyroid tumorigenesis
Interests: neurodevelopmental disorders; autism; epilepsy; copy number variations; genomic syndromes; next-generation sequencing; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Calcium and phosphorus are among the most abundant mineral elements of the human body and are tightly regulated by a homeostasis which is as subtle as it is complex. Nevertheless, Ca and P inherited disorders still represent an underestimated niche of human diseases due to the difficulties associated with a prompt and effective diagnosis, as reflected in the challenges faced in patient management.
Although the recent achievements in the NGS era allowed the identification of some genetic triggers of the Ca/P metabolism, their exact role in the actual pathophysiology remains elusive.
This Special Issue of Genes aims to better focus on genetic and genomics determinants that could influence the subtle balance at the base of Ca and P homeostasis. Thus, unpublished manuscripts (research articles, reviews, and communications) on the NGS approach, as well as functional studies on old and novel genetic players, describing basic, translational, and clinical insights, are encouraged, with particular interest in primary hyperparathyroidism (and endophenotypes, such as FIHP, FHH, HPT-JT, MEN1), hypophosphatemia, hypophosphatasia, and other related disorders.
Dr. Vito Guarnieri
Dr. Maurizio Delvecchio
Dr. Chiara Verdelli
Dr. Orazio Palumbo
Guest Editors
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Keywords
- next-generation sequencing
- genetics
- metabolism
- metabolic disorders
- primary hyperparathyroidism
- hypophosphatemia
- hypophosphatasia
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