The Turkish Journal of Pediatrics, 2017 Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization.
Serap Dökmeci-Emre +6 more
doaj +1 more source
Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Journal of Cutaneous Pathology, Volume 52, Issue 10, Page 597-600, October 2025.
Cathal O'Connor +4 more
wiley +1 more source
Neuronopathic Gaucher disease: Rare in the West, common in the East
Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 917-934, September 2024.Abstract Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated.
Ozlem Goker‐Alpan +1 more
wiley +1 more source
The genotype 3-specific hepatitis C virus core protein residue phenylalanine 164 increases steatosis in an in vitro cellular model.: HCV genotype 3-specific steatosis [PDF]
, 2007 International audienceBackground and aims: The prevalence and severity of liver steatosis are higher in patients infected with genotype 3 hepatitis C virus (HCV) than in patients infected with other genotypes.
Alain, Moreau +7 more
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Genetic testing and new variants in diagnosis of congenital ichthyoses
Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Milja Salo +3 more
wiley +1 more source
Titration of fowl pox virus and antiserum [PDF]
, 1956 Call number: LD2668 .T4 1956 R68Master of ...
Rouhandeh, Hassan.
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Study of physiological and pathological skin changes in neonates: An east indian perspective
Indian Journal of Paediatric Dermatology, 2018 Background: Numerous dermatological conditions are prevalent in neonatal period, i.e., first 28 days of life with varied presentations ranging from transient self-limiting lesions to serious dermatosis requiring clinical attention.
Binodini Behera +5 more
doaj +1 more source
Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]
, 2017 Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S. +3 more
core +2 more sources
Defect in lung growth Comparative study of three diagnostic criteria. [PDF]
, 2009 Traduction anglaise de l'article Arch Pediatr. 2004 Jun;11(6):515-7 Référence pubmed : 15158815A systematic analysis was made of the autopsies of 74 newborns and fetuses (49 pathological cases and 25 controls) to detect defects in lung growth.
Caux, O. +4 more
core +1 more source
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. [PDF]
, 2014 Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like ...
Andrea Diociaiuti +9 more
core +1 more source