Results 161 to 170 of about 6,644 (221)

Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. [PDF]

Intern Med
Nakashima S, Hamada M, Kimura T, Tanifuji S, Takahashi A, Yashita D, Kakimoto Y, Matsukawa T, Ishiura H, Toda T.   +9 more
europepmc   +1 more source

Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7). [PDF]

Cureus
Kimball TN, García-Rueda AG, Rivero-García P, Pérez-Segovia AH, Mayoral-Carrasco LE.   +4 more
europepmc   +1 more source

TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2. [PDF]

Mol Syndromol
Vafaei N, Mohebbi A, Rezaei Z, Heidari M, Hosseinpour S, Dehnavi AZ, Ghamari A, Salehipour M, Rabbani A, Mahdieh N, Ashrafi MR.   +10 more
europepmc   +1 more source

Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa. [PDF]

Mol Genet Metab Rep
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan Natacha S, Carvalho EDF, Carvalho de Andrade MDF, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Embiruçu Emilia K, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM.   +34 more
europepmc   +1 more source

Corrigendum to "Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa." [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]. [PDF]

Mol Genet Metab Rep
Guelbert N, Espitia Segura OM, Amoretti C, Arteaga Arteaga A, Atanacio NG, Bazan NS, Fernandes Carvalho ED, Fernandes Carvalho de Andrade MD, Denzler IM, Durand C, Ribeiro E, Giugni JC, González G, González Moron D, Guelbert G, Hernández Rodriguez ZJ, Emilia KE, Kauffman MA, Mancilla NI, Marcon L, Marques Pereira A, Fischinger Moura de Souza C, Muñoz VA, Naranjo Flórez RA, Pessoa AL, Ruiz MV, Solano Villareal ML, Spécola N, Tavera LM, Tello J, Troncoso Schifferli M, Ugrina S, Vaccarezza MM, Vergara D, Villanueva MM.   +34 more
europepmc   +1 more source

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

FEBS Letters, 1993
We have isolated storage cytosomes from brain tissue of patients with infantile neuronal ceroid-lipofuscinosis. The purified storage bodies were subjected to compositional analysis which revealed a high content of proteins, accounting for 43% of dry ...
Jaana Tyynelä, David N Palmer, Marc Baumann   +2 more
exaly   +2 more sources

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Juvenile neuronal ceroid lipofuscinosis

The Indian Journal of Pediatrics, 2000
A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities.
S, Gulati, R, Maheshwari, M, Kabra, I C, Verma, V, Kalra   +4 more
openaire   +2 more sources