Results 21 to 30 of about 4,597 (153)

A clinical case of type 2 neuronal ceroid lipofuus cynosis caused by a homozygous mutation in the TPP1 gene

Лечащий Врач, 2022
Neuronal ceroid lipofuscinosis is a group of diseases caused by the accumulation of autofluorescent lipid-containing pigments: ceroid and lipofuscin. Pigments form intracellular inclusions that look like curvilinear layered bodies (sometimes resembling ...
A. V. Serezhkina, A. A. Bulkа, I. G. Khmelevskaya, N. S. Razinkova, T. A. Minenkova, M. O. Babkin   +5 more
doaj   +1 more source

Experience in Diagnosing Neuronal Ceroid Lipofuscinosis Type-2

Journal Of The Indonesian Medical Association, 2021
Introduction: Developmental regression is always an alarming symptom in children as it is an early sign of some genetic disorders, one of which is neuronal ceroid lipofuscinosis (NCL). NCL is a group of rare neurodegenerative disorder caused by accumulation of intracellular ceroid lipofuscin.
Lanny Christine Gultom, Valensia Vivian The   +1 more
openaire   +1 more source

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

Frontiers in Pediatrics, 2022
IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues, Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, María L. Couce, Cristóbal Colón   +10 more
doaj   +1 more source

Red flags for neuronal ceroid lipofuscinosis type 2 disease [PDF]

Developmental Medicine & Child Neurology, 2019
This commentary is on the case series by Dozières‐Puyravel et al. on pages 528–530 of this issue.
Marina Trivisano, Nicola Specchio
openaire   +2 more sources

The diagnostic challenges presented in a patient with neuronal ceroid lipofuscinosis type 2

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2023
Neuronal ceroid lipofuscinosis type 2 (NCL2) is a severe, continuously progressive hereditary metabolic disease for which there is an effective enzyme replacement therapy.Purpose. To study the opinions of specialists (pediatric neurologists, neurologists-epileptologists, geneticists) about the obstacles to the early diagnosis of neuronal ceroid ...
E. D. Belousova, S. V. Mikhaуlova, E. Yu. Zakharova   +2 more
openaire   +1 more source

Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America

Journal of Inborn Errors of Metabolism and Screening, 2020
Given the lack of standardized guidance for follow-up of patients with neuronal ceroid lipofucsinosis-2 disease in Latin-American countries and the heterogeneity of the region, an expert panel was created with the participation of 11 pediatric ...
Norberto Guelbert, Nora Atanacio, Inés Denzler, Emília Katiane Embiruçu, Nury Mancilla, Ricardo Naranjo, André Pessoa, Norma Spécola, Lina Tavera, Mónica Troncoso, Diane Vergara   +10 more
doaj   +1 more source

Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroid lipofuscinosis: effect of glycan modification. [PDF]

PLoS ONE, 2012
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a recessive genetic disease of childhood caused by deficiencies in the lysosomal protease tripeptidyl peptidase I (TPP1). Disease is characterized by progressive and extensive neuronal death.
Yu Meng, Istvan Sohar, Lingling Wang, David E Sleat, Peter Lobel   +4 more
doaj   +1 more source

A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation

Journal of the College of Physicians and Surgeons Pakistan, 2020
Neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder that causes progressive neurodegenerative disease as a result of storage in neurons and other cells. Late infantile type (NCL Type 2) of NCL, which is the most common neurodegenerative disease in childhood, is characterised by a homozygous mutation in the tripeptidyl peptidase-1 (TPP ...
Ozgun, Uygur, Mehmet Yekta, Oncel, Pinar, Gencpinar, Merve Saka, Guvenc, Nihal Olgac, Dundar   +4 more
openaire   +3 more sources

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease

Cells, 2023
Over the recent decades, the use of extracellular vesicles (EVs) has attracted considerable attention. Herein, we report the development of a novel EV-based drug delivery system for the transport of the lysosomal enzyme tripeptidyl peptidase-1 (TPP1) to ...
Nazira El-Hage, Matthew J. Haney, Yuling Zhao, Myosotys Rodriguez, Zhanhong Wu, Mori Liu, Carson J. Swain, Hong Yuan, Elena V. Batrakova   +8 more
doaj   +1 more source

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources