Multiple sulfatase deficiency with neonatal manifestation-Reference-Cited by-同舟云学术

Multiple sulfatase deficiency with neonatal manifestation

Published:2014-12 Issue:1 Volume:40 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Garavelli Livia,Santoro Lucia,Iori Alexandra,Gargano Giancarlo,Braibanti Silvia,Pedori Simona,Melli Nives,Frattini Daniele,Zampini Lucia,Galeazzi Tiziana,Padella Lucia,Pepe Stefano,Wischmeijer Anita,Rosato Simonetta,Ivanovski Ivan,Iughetti Lorenzo,Gelmini Chiara,Bernasconi Sergio,Superti-Furga Andrea,Ballabio Andrea,Gabrielli Orazio

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-014-0086-2.pdf

Reference11 articles.

1. Hopwood J, Ballabio A: Multiple sulfatases deficiency and the nature of the sulfatase family. The metabolic and molecular bases of inherited disease. 2001, Scriver CR, New York, 3725-3732.

2. Dhoot GK, Gustafsson MK, Ai X, Sun W, Standiford DM, Emerson CP: Regulation of Wnt signaling and embryo patterning by an extracellular sulfatase. Science. 2001, 293: 1663-1666. 10.1126/science.293.5535.1663.

3. Schmidt B, Selmer T, Ingendoh A, Von Figura K: A novel amino acid modification in sulfatase that is defective in multiple sulfatase deficiency. Cell. 1995, 82 (2): 271-278. 10.1016/0092-8674(95)90314-3.

4. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A: The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003, 113 (4): 445-456. 10.1016/S0092-8674(03)00348-9.

5. Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, von Figura K: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-Formylglycine generating enzyme. Cell. 2003, 113 (4): 435-444. 10.1016/S0092-8674(03)00347-7.

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1. Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review;BMC Pediatrics;2023-03-24

2. Fallvorstellung einer weltweit seltenen homozygoten Splicemutation in SUMF1;Geburtshilfe und Frauenheilkunde;2022-05

3. Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD;ERJ Open Research;2022-04

4. Natural Disease History and Characterization of SUMF1 Molecular Defects in Multiple Sulfatase Deficiency: a Case Report;INT J PEDIATR-MASSHA;2021

5. Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma;Case Reports in Pediatrics;2021-02-16