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  • 1-10 of  30 results for ""Infantile neuronal ceroid lipofuscinosis""
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Editorial & Opinion

In response: Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening.

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/diagnosis ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics; Infant, Newborn

  • Source: Epilepsia [Epilepsia] 2023 Aug; Vol. 64 (8), pp. 2216-2217. Date of Electronic Publication: 2023 Jun 04.Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Economic analysis of cerliponase alfa for treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2).

  • Authors : Gutić M; Department of Pharmacology and Toxicology, Faculty of Medical Sciences, University of Kragujevac, Kragujevac, Serbia.; Milosavljević MN

Subjects: Tripeptidyl-Peptidase 1* ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/drug therapy; Humans

  • Source: Expert review of pharmacoeconomics & outcomes research [Expert Rev Pharmacoecon Outcomes Res] 2023 Jun; Vol. 23 (5), pp. 561-570. Date of Electronic Publication: 2023 Apr 03.Publisher: Taylor & Francis Country of Publication: England NLM ID: 101132257 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease.

  • Authors : Ho ML; Nationwide Children's Hospital, Columbus, OH, USA.; Wirrell EC

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/diagnosis; Child ; Humans

  • Source: Journal of child neurology [J Child Neurol] 2022 Dec; Vol. 37 (12-14), pp. 984-991. Date of Electronic Publication: 2022 Oct 03.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283

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Academic Journal

Ppt1-deficiency dysregulates lysosomal Ca ++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.

  • Authors : Mondal A; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, The National Institutes of Health, Bethesda, Maryland, USA.; Appu AP

Subjects: Lipofuscin* ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/pathology

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 635-656. Date of Electronic Publication: 2022 Mar 17.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Motopsin deficiency imparts partial insensitivity to doxorubicin-induced hippocampal impairments in adult mice.

  • Authors : Miyata S; Department of Rehabilitation Sciences, Gunma University Graduate School of Health Sciences, 3-39-22 Showa, Maebashi, Gunma 371-8514, Japan.; Kashio T

Subjects: CA1 Region, Hippocampal/CA1 Region, Hippocampal/CA1 Region, Hippocampal/*pathology ; CA3 Region, Hippocampal/CA3 Region, Hippocampal/CA3 Region, Hippocampal/*pathology ; Chemotherapy-Related Cognitive Impairment/Chemotherapy-Related Cognitive Impairment/Chemotherapy-Related Cognitive Impairment/*pathology

  • Source: Neuroscience letters [Neurosci Lett] 2021 Oct 15; Vol. 763, pp. 136181. Date of Electronic Publication: 2021 Aug 18.Publisher: Elsevier Scientific Publishers Ireland Country of Publication: Ireland NLM ID: 7600130 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Ablation of microRNA-155 and neuroinflammation in a mouse model of CLN1-disease.

  • Authors : Sadhukhan T; Section on Developmental Genetics, Division on Translational Medicine, USA. Electronic address: .; Bagh MB

Subjects: Disease Models, Animal*; Inflammation/Inflammation/Inflammation/*metabolism ; MicroRNAs/MicroRNAs/MicroRNAs/*metabolism

  • Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2021 Sep 24; Vol. 571, pp. 137-144. Date of Electronic Publication: 2021 Jul 26.Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation.

  • Authors : Sadhukhan T; Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, The National Institutes of Health, Bethesda, Maryland, USA.; Bagh MB

Subjects: Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/*genetics ; Thiolester Hydrolases/Thiolester Hydrolases/Thiolester Hydrolases/*deficiency ; Thiolester Hydrolases/Thiolester Hydrolases/Thiolester Hydrolases/*genetics

  • Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 1051-1069. Date of Electronic Publication: 2021 Mar 29.Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665

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Academic Journal

Management of CLN1 Disease: International Clinical Consensus.

  • Authors : Augustine EF; Department of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York. Electronic address: .

Subjects: Consensus*; Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/*complications ; Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/*diagnosis Ceroid lipofuscinosis, neuronal 1, infantile

  • Source: Pediatric neurology [Pediatr Neurol] 2021 Jul; Vol. 120, pp. 38-51. Date of Electronic Publication: 2021 Apr 09.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.

  • Authors : Schaefers J; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.; van der Giessen LJ

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/drug therapy; Child, Preschool ; Cohort Studies

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 May 14; Vol. 16 (1), pp. 221. Date of Electronic Publication: 2021 May 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.

  • Authors : Wibbeler E; 37734University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany.; Wang R

Subjects: Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/*therapeutic use ; Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/Neuronal Ceroid-Lipofuscinoses/*drug therapy ; Recombinant Proteins/Recombinant Proteins/Recombinant Proteins/*therapeutic use

  • Source: Journal of child neurology [J Child Neurol] 2021 May; Vol. 36 (6), pp. 468-474. Date of Electronic Publication: 2020 Dec 23.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283

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  • 1-10 of  30 results for ""Infantile neuronal ceroid lipofuscinosis""