Lampe C - Search Results

1

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: lampe c. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975

2

Surgical management of neurological manifestations of mucopolysaccharidosis disorders.

Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L. Alden TD, et al. Among authors: lampe c. Mol Genet Metab. 2017 Dec;122S:41-48. doi: 10.1016/j.ymgme.2017.09.011. Epub 2017 Sep 28. Mol Genet Metab. 2017. PMID: 29153846 Free article. Review.

3

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Harmatz PR, et al. Among authors: lampe c. J Inherit Metab Dis. 2019 May;42(3):519-526. doi: 10.1002/jimd.12079. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834539

4

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).

Solanki GA, Sun PP, Martin KW, Hendriksz CJ, Lampe C, Guffon N, Hung A, Sisic Z, Shediac R, Harmatz PR; CSP Study Group. Solanki GA, et al. Among authors: lampe c. Mol Genet Metab. 2016 Aug;118(4):310-8. doi: 10.1016/j.ymgme.2016.06.001. Epub 2016 Jun 3. Mol Genet Metab. 2016. PMID: 27339555 Free article. Clinical Trial.

5

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

Lampe C, Lampe C, Schwarz M, Müller-Forell W, Harmatz P, Mengel E. Lampe C, et al. J Inherit Metab Dis. 2013 Nov;36(6):1005-13. doi: 10.1007/s10545-013-9591-5. Epub 2013 Feb 14. J Inherit Metab Dis. 2013. PMID: 23408180

6

Spinal cord issues in adult patients with MPS: transition of care survey.

Ghotme KA, Alvarado-Gomez F, Lampe C, White KK, Solano-Villareal M, Giugliani R, Harmatz PR. Ghotme KA, et al. Among authors: lampe c. Childs Nerv Syst. 2018 Sep;34(9):1759-1765. doi: 10.1007/s00381-018-3834-6. Epub 2018 May 27. Childs Nerv Syst. 2018. PMID: 29804213

7

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Lampe C, Harmatz PR, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Lampe C, et al. Mol Genet Metab. 2019 Aug;127(4):355-360. doi: 10.1016/j.ymgme.2019.06.008. Epub 2019 Jul 2. Mol Genet Metab. 2019. PMID: 31324526 Free article.

8

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Tylki-Szymańska A, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Parini R, Wijburg FA, Zeman J, Scarpa M. Tylki-Szymańska A, et al. Among authors: lampe c. Acta Paediatr. 2018 Aug;107(8):1402-1408. doi: 10.1111/apa.14417. Acta Paediatr. 2018. PMID: 29797470 Free PMC article.

9

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Among authors: lampe c. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

10

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Among authors: lampe c. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.

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