• <em>Dysosmobacter welbionis</em> is a newly isolated human commensal bacterium preventing diet-induced obesity and metabolic disorders in mice
• "New syndromes," Part II: "European" syndromes
• A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited
• A case of de Barsy syndrome with a severe eye phenotype
• A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report
• Acute encephalomyopathy and persistent cerebellar syndrome after lithium salt and haloperidol poisoning
• Anesthesia considerations for patients with de Barsy syndrome
• Bilateral tonic pupils and polyneuropathy in Sjögren's syndrome: a common pathophysiological mechanism?
• Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome)
• Brain glucose metabolism in postanoxic syndrome due to cardiac arrest
• Brain glucose metabolism in postanoxic syndrome. Positron emission tomographic study
• Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis
• Clinical implications of de Barsy syndrome
• Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome
• Congenital corneal opacification in De Barsy syndrome
• De Barsy syndrome
• De Barsy syndrome and ATP6V0A2-CDG
• De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities
• De Barsy syndrome--an autosomal recessive, progeroid syndrome
• De Barsy syndrome, a further case (author's transl)
• De Barsy Syndrome: A Case Report of a Rare Genetic Disorder
• De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction
• De Barsy syndrome: a review of the phenotype
• De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin
• Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?
• Enzyme replacement in Pompe disease: an attempt with purified human acid alpha-glucosidase
• Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)
• Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
• Horton's disease and extra-temporal vessel locations: role of 18FDG PET scan. Report of 3 cases and review of the literature
• Increased Serpina3n release into circulation during glucocorticoid-mediated muscle atrophy
• Lethal pseudotumoral syndrome following suprarenal deprivation. Picture of fatal cerebral hypertension, in the course of a lipidic nephrosis with abrupt stop of cortisone treatment
• Molecular etiology of skin aging. How important is the genetic make-up?
• Moyamoya disease and Down syndrome: case report and review of the literature
• New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV
• Orthopaedic manifestations in de Barsy syndrome
• Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature
• Psychometric studies in Friedreich's ataxia
• Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
• Role of Activin A and myostatin in human cancer cachexia
• Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
• Supplementation with Akkermansia muciniphila in overweight and obese human volunteers: a proof-of-concept exploratory study
• The De Barsy syndrome
• The de Barsy syndrome
• The De Barsy syndrome
• The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases
• Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families