PMC Links for Books (Select 4743020) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 80187112.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura A. Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria Escolar, Sarah H. Evans, Ali Fatemi, Jamie Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan Maddock, Edna Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas Langan, Richard Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William Rizzo, Jay Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Genevieve Bernard, Keith van Haren, Adeline Vanderver

Mol Genet Metab. Author manuscript; available in PMC 2021 Apr 2.

Published in final edited form as: Mol Genet Metab. 2017 Sep; 122(1-2): 18–32. Published online 2017 Aug 20. doi: 10.1016/j.ymgme.2017.08.006

PMCID:: PMC8018711

Article PDF–270K

Select item 68568733.

Complex care of individuals with Multiple Sulfatase Deficiency: clinical cases and consensus statement

Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A. Adang

Mol Genet Metab. Author manuscript; available in PMC 2019 Nov 15.

Published in final edited form as: Mol Genet Metab. 2018 Mar; 123(3): 337–346. Published online 2018 Jan 31. doi: 10.1016/j.ymgme.2018.01.005

PMCID:: PMC6856873

Article PDF–634K

Select item 51104384.

The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?

Uri Zilberman, Haim Bibi

JIMD Rep. 2016; 30: 95–101. Published online 2016 Jun 26. doi: 10.1007/8904_2015_523

PMCID:: PMC5110438

Article PDF–598K

Select item 43758465.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, Nathalie Bednarek, Catherine Caillaud, Yves Chaix, Marie-Ange Delrue, Anne Dusser, Roseline Froissart, Roselyne Garnotel, Nathalie Guffon, André Megarbane, Hélène Ogier de Baulny, Jean-Michel Pédespan, Samia Pichard, Vassili Valayannopoulos, Alain Verloes, Thierry Levade

Orphanet J Rare Dis. 2015; 10: 31. Published online 2015 Mar 15. doi: 10.1186/s13023-015-0244-7

PMCID:: PMC4375846

Article PDF–2.0M

Select item 42993976.

Multiple sulfatase deficiency with neonatal manifestation

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

Ital J Pediatr. 2014; 40: 86. Published online 2014 Dec 17. doi: 10.1186/s13052-014-0086-2

PMCID:: PMC4299397

Article PDF–791K

Select item 38416417.

Multiple sulfatase deficiency: A case series of four children

Faruk Incecik, Mehmet N. Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M. Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak

Ann Indian Acad Neurol. 2013 Oct-Dec; 16(4): 720–722. doi: 10.4103/0972-2327.120449

PMCID:: PMC3841641

Article PDF–769K

Select item 37462678.

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency

Lars Schlotawa, Karthikeyan Radhakrishnan, Matthias Baumgartner, Regula Schmid, Bernhard Schmidt, Thomas Dierks, Jutta Gärtner

Eur J Hum Genet. 2013 Sep; 21(9): 1020–1023. Published online 2013 Jan 16. doi: 10.1038/ejhg.2012.291

PMCID:: PMC3746267

Article PDF–430K

Select item 32289579.

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

Elizabeth A. Braunlin, Paul R. Harmatz, Maurizio Scarpa, Beatriz Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani

J Inherit Metab Dis. 2011; 34(6): 1183–1197. Published online 2011 Jul 9. doi: 10.1007/s10545-011-9359-8

PMCID:: PMC3228957

Article PDF–595K

Select item 306201010.

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Lars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, Bernhard Schmidt, Anupam Chakrapani, Hans-Jürgen Christen, Hugo Moser, Beat Steinmann, Thomas Dierks, Jutta Gärtner

Eur J Hum Genet. 2011 Mar; 19(3): 253–261. Published online 2011 Jan 12. doi: 10.1038/ejhg.2010.219

PMCID:: PMC3062010

Article PDF–836K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 10

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity