Results 41 to 50 of about 3,242 (162)

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests [PDF]

, 2011
Background: Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families.
Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis   +6 more
core   +2 more sources

PD‐L1‐Inhibitor‐Associated Hidradenitis Suppurativa

Journal of Cutaneous Pathology, EarlyView.
Annie Jin, Katherine T. Steele, Emily Y. Chu   +2 more
wiley   +1 more source

Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology

Biology of the Cell, Volume 117, Issue 10, October 2025.
The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa, Myckaëla Rouabah, Paula Pernea, Smail Hadj‐Rabia, Cédric Delevoye   +4 more
wiley   +1 more source

Non‐Pulmonary Vein Substrate Ablation of Recurrent Atrial Fibrillation in the Patient With Fabry Disease

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Fabry disease (FD) is a rare disease that progressively causes myocardial degeneration. There are only a few low‐voltage areas, but some fractionated potentials are present in the left atrium of FD patients with atrial fibrillation (AF). Attempting non‐pulmonary vein (non‐PV) substrate ablation may be worthwhile.
Koumei Onuki, Kenichi Hiroshima, Akihiro Isotani, Masato Fukunaga, Michio Nagashima, Kenji Ando   +5 more
wiley   +1 more source

Topiramate associated hypohidrosis and hyperthermia.

Indian pediatrics, 2008
PubMedID ...
Incecik F., Hergüner M.O., Altunbasak S.   +2 more
openaire   +2 more sources

Granulomatous mycosis fungoides with hypohidrosis mimicking lepromatous leprosy

Indian Journal of Dermatology, Venereology, and Leprology, 2010
Granulomatous mycosis fungoides (GMF) is a rare type of cutaneous T cell lymphoma. A 38-year-old married male presented with decreased sweating all over the body for last 8 years, progressive redness and scaling over body for 2 years and multiple noduloulcerative lesions over the body for 1 year.
Gutte, Rameshwar, Kharkar, Vidya, Mahajan, Sunanda, Chikhalkar, Siddhi, Khopkar, Uday   +4 more
openaire   +2 more sources

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Fabry Disease in Latin America: Data from the Fabry Registry [PDF]

, 2012
The purpose of these analyses was to characterize demographic and baseline clinical characteristics of Latin American patients with Fabry disease compared to that of patients in the rest of the world.
A Linhart, A Mehta, A Ortiz, AL Cole, AS Levey, CM Eng, DP Germain, DP Germain, EH Kolodny, GE Linthorst, K Sims, KF Gold, M Banikazemi, MH Branton, NA Chamoles, PJ Meikle, R Schiffmann, R Schiffmann, RJ Desnick, RJ Hopkin, RO Brady, S Waldeck, S Waldek, TT Nguyen, WR Wilcox   +24 more
core   +1 more source

Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature

Pediatric Dermatology, Volume 42, Issue 4, Page 747-753, July/August 2025.
ABSTRACT Background/Objectives Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay‐like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features ...
Grace X. Li, Kathryn Chen, Deshan F. Sebaratnam, James P. Pham   +3 more
wiley   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source