Vulvovaginal involvement in Pediatric Stevens-Johnson Syndrome: A case series

Autor: Frances Grimstad, Tazim Dowlut-McElroy, Max Holtz, Julie Strickland, Jeannette Higgins, George Denny

Publikováno v: J Pediatr Adolesc Gynecol

Background Stevens−Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening spectra of mucocutaneous delayed hypersensitivity reactions. Prodromal viral-like symptoms are followed by a characteristic diffuse rash caused by k

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8496330f3173aaa910c5e927df3ec8a
https://europepmc.org/articles/PMC8489310/

Association between mucopolysaccharidosis Type VII and hydrops fetalis

Autor: William S. Sly, Max Holtz, Adriana M. Montaño

Publikováno v: Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyReferences. 55(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae180c39ea7e9e17ff2f912d8304ad6
https://pubmed.ncbi.nlm.nih.gov/31180609

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Autor: Fatih Süheyl Ezgü, Kaustuv Bhattacharya, Raymond Y. Wang, Roberto Giugliani, Max Holtz, Brett H. Graham, Mahmut Çoker, Rena E. Falk, José Francisco da Silva Franco, Robert D. Steiner, Alfons Macaya, Robert M. Greenstein, William S. Sly, Grant A. Mitchell, Ngu Lock-Hock, Gregory M. Pastores, Mercedes Pineda, Loreta Cimbalistiene, Laila Arash, Klane K. White, Antonio González-Meneses, Anastasia K. Ketko, Michael Beck, Marina Szlago, Adriana M. Montaño, Dennis Bartholomew, Akemi Tanaka, Mark S. Sands

Publikováno v: JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of medical genetics, London : BMJ Publishing group, 2016, vol. 53, iss. 6, p. 403-418
Journal of medical genetics, vol 53, iss 6
Journal of Medical Genetics

WOS: 000377110800007
PubMed ID: 26908836
Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of beta-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b94c3aaa5f62e908319f0f9188207a
https://hdl.handle.net/10668/9860