Phenylalanine hydroxylase deficiency, historically described as phenylketonuria, occupies an unusual position in medicine. It was the first inherited metabolic disorder for which dietary intervention prevented intellectual disability, the first to be detected through population n...
Open access
Research Article10.9734/jammr/2026/v38i106221
Osteogenesis imperfecta is the prototypical heritable disorder of bone fragility, and the last three decades have transformed it from a clinically defined syndrome into a molecularly stratified group of conditions involving more than twenty genes. That transformation has not been...
Open access
Research Article10.9734/jamps/2026/v28i9890
Advances in circulating placental DNA analysis and in programmable genome editing have developed largely in parallel, yet their conjunction has generated an increasingly discussed proposition: that a pathogenic single-gene variant might be identified non-invasively at the earlies...
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Research Article10.9734/ajmah/2026/v24i91427
Achondroplasia arises almost invariably from a single recurrent gain-of-function variant in the gene encoding fibroblast growth factor receptor 3, and has therefore become a reference case for genotype-directed drug development in paediatric rare disease. Within five years the fi...
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Research Article10.9734/ajpr/2026/v16i9568
Circulating fetoplacental nucleic acids have transformed prenatal medicine within a single generation, and screening based on cell-free DNA (cfDNA) is now offered routinely in many health systems. The field is moving quickly from the detection of whole-chromosome aneuploidy towar...
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Research Article10.9734/ajpr/2026/v16i9564
Cell-free DNA (cfDNA) circulating in plasma is fragmented non-randomly, and the resulting patterns carry information about the cells and tissues from which the molecules were released. The analysis of these patterns, termed fragmentomics, includes fragment size distributions, pre...
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Research Article10.9734/ajmah/2026/v24i91418
Severe childhood epilepsy syndromes, encompassing the developmental and epileptic encephalopathies together with related drug-resistant electroclinical constellations, remain among the most challenging conditions in paediatric neurology. They combine frequent, treatment-resistant...
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Research Article10.9734/ajpr/2026/v16i9563
The fetal epigenome is established during periods of extensive cellular differentiation and may record, buffer or transmit information about the maternal milieu. This critical narrative review evaluates evidence that maternal nutrition and metabolic state, environmental toxicants...
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Research Article10.9734/ajmah/2026/v24i81410
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disorder among populations of European ancestry, and the childhood years determine much of its long-term trajectory. The therapeutic landscape has been reshaped by cystic fibrosis transmembrane conductance...
Open access
Research Article10.9734/ajpr/2026/v16i8560
Limb-girdle muscular dystrophy type 2I, now designated R9 (LGMD2I/R9), is an autosomal recessive dystroglycanopathy caused by biallelic pathogenic variants in the fukutin-related protein (FKRP) gene. Loss of FKRP glycosyltransferase activity disrupts the ribitol-phosphate-mediate...
Open access
Research Article10.9734/jamps/2026/v28i8878
Angelman syndrome is a severe neurogenetic disorder characterised by developmental delay, motor impairment, absent or markedly limited speech, epilepsy and a characteristic happy demeanour with frequent laughter. It results from loss of function of the maternally inherited UBE3A...
Open access
Research Article10.9734/ajpr/2026/v16i6548
Rare genetic ataxias in childhood are usually progressive neurological disorders characterized by coordination problems (balance/gait instability, fine motor skills) due to damage to the cerebellum. Ataxias are movement disorders that mainly originate from the cerebellum and its...
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Research Article10.9734/ajpr/2026/v16i5542
Rare childhood short stature disorders such as Achondroplasia, Hypochondroplasia, ACAN syndrome, and Noonan Syndrome are primarily caused by specific genetic mutations that disrupt normal bone growth and development. Advances in molecular diagnostics have improved early detection...
Open access
Research Article10.9734/ajpr/2026/v16i4539
Circular RNA (circRNA) and long non-coding RNA (lncRNA) play a crucial role in gene regulation through microRNA (miRNA) pathways. Initially viewed as a molecular curiosity or a byproduct of RNA splicing processes, circRNAs were largely overlooked. Their biological relevance and d...
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Research Article10.9734/ajpr/2025/v15i7465
Autoimmune pancreatitis (AIP) has gained significant attention in recent years, with a notable increase in diagnoses due to the diagnostic utility of immunoglobulin G4 (IgG4). Despite the well-known IgG4-related type 1 AIP, a less recognized subtype known as type 2 AIP exists, wh...
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Research Article10.9734/ajpr/2024/v14i6353
Sickle cell disease encompasses diseases that are pathophysiologically caused by hemoglobin S. The HbS component of total hemoglobin in SCD is normally over 50%. HbS is based on an amino acid substitution at position 6 of the β-globin chain, where glutamic acid is replaced by val...
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Research Article10.9734/ajpr/2024/v14i6350
The incubator for children to improve the survival chances of premature and immature newborns was developed in France as early as 1857. The first device in the United States was built by William Champion Deming at the State Emigrant Hospital on Ward's Island, New York. The first...
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Research Article10.9734/ajpr/2024/v14i4341
The fibroblast growth factor receptors play a crucial role in binding to fibroblast growth factor and are involved in various pathological conditions. These receptors consist of an extracellular ligand domain, a transmembrane helix domain, and an intracellular domain with tyrosin...
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Research Article10.9734/ajpr/2024/v14i4337
In 1862, the French doctor Maurice Raynaud published his dissertation in Paris titled "Sur l’asphyxie locale et la gangrène symétrique des extrémités" (On local asphyxia and symmetrical gangrene of the extremities). In it, he described a series of cases in which there were episod...
Open access
Research Article10.9734/ajpr/2024/v14i3332
Organoids are three-dimensional, organ-like cell assemblies in which different cell types have organized themselves in a way that is approximately typical for the corresponding organ in the body. They show three characteristics: self-organization, multicellularity and functionali...
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Research Article10.9734/ajpr/2023/v13i3276
Epilepsy with intelligence impairment, restricted to the female sex, is a rare X-linked epilepsy syndrome. It is characterized by febrile or afebrile seizures, mainly tonic-clonic, but also absence, myoclonic, and atonic beginning in the first years of life. In most cases, develo...
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Research Article10.9734/ajpr/2023/v13i3275
The association between Kawasaki disease and dengue fever is uncommon and can be difficult to diagnose due to overlapping clinical symptoms. There have been few reported cases of children with confirmed dengue fever developing Kawasaki disease. A prior infection of dengue fever p...
Open access
Research Article10.9734/ajpr/2024/v14i10392