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1.
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Mol Genet Metab
; 142(1): 108444, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38555683
2.
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology.
Int J Mol Sci
; 24(13)2023 Jul 07.
Article
in English
| MEDLINE | ID: mdl-37446383
3.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35471153
4.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genet Med
; 23(8): 1543-1550, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33875845
5.
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
J Inherit Metab Dis
; 44(5): 1124-1135, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33844307
6.
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Int J Mol Sci
; 22(23)2021 Nov 28.
Article
in English
| MEDLINE | ID: mdl-34884674
7.
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Int J Mol Sci
; 22(11)2021 May 24.
Article
in English
| MEDLINE | ID: mdl-34073924
8.
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.
Mol Genet Metab
; 130(3): 170-171, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32386848
9.
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Eur J Pediatr
; 178(5): 739-753, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30809705
10.
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Int J Mol Sci
; 20(8)2019 Apr 24.
Article
in English
| MEDLINE | ID: mdl-31022913
11.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Article
in English
| MEDLINE | ID: mdl-26352813
12.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29797470
13.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Acta Paediatr
; 107(12): 2059-2065, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30242902
14.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Genet Med
; 24(10): 2209, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36205749
15.
Epilepsy in mucopolysaccharidosis disorders.
Mol Genet Metab
; 122S: 55-61, 2017 12.
Article
in English
| MEDLINE | ID: mdl-29170080
16.
Treatment of brain disease in the mucopolysaccharidoses.
Mol Genet Metab
; 122S: 25-34, 2017 12.
Article
in English
| MEDLINE | ID: mdl-29153844
17.
The ethical framework for performing research with rare inherited neurometabolic disease patients.
Eur J Pediatr
; 176(3): 395-405, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28093642
18.
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Metab Brain Dis
; 32(5): 1529-1536, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28577204
19.
[Lysosomal Storage Diseases: Challenges in Multiprofessional Patient Care with Enzyme Replacement Therapy]. / Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie.
Klin Padiatr
; 229(3): 168-174, 2017 May.
Article
in German
| MEDLINE | ID: mdl-28464188
20.
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.
Int J Mol Sci
; 18(5)2017 May 17.
Article
in English
| MEDLINE | ID: mdl-28513549