Results 111 to 120 of about 8,173 (220)
Management of harlequin ichthyosis in low-income countries [PDF]
, 2011 Mesia, D, Rossi, G
core +2 more sources
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]
, 2017 Connolly, Anne M +4 more
core +2 more sources
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
core
Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. [PDF]
Clin Cosmet Investig Dermatol, 2023 Lilly E, Bunick CG.
europepmc +1 more source
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]
, 2016 core +1 more source
Caspian Journal of Neurological Sciences, 2015 Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation.
Karim Nikkhah +2 more
doaj
Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit. [PDF]
BMJ Case Rep, 2023 Dias JV, Cardoso K, Prado SN, Cavaco H.
europepmc +1 more source
Distinct skin microbiome community structures in congenital ichthyosis. [PDF]
Br J Dermatol, 2022 Tham KC +16 more
europepmc +1 more source
PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. [PDF]
Metabolites, 2022 Zeng F, Qin W, Huang F, Chang P.
europepmc +1 more source