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Quoted phrase not found in phrase index: "Cerebellar atrophy, visual impairment, and psychomotor retardation;"
Page 1
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, Sanabria-Castro A. Badilla-Porras R, et al. Orphanet J Rare Dis. 2022 Jan 10;17(1):13. doi: 10.1186/s13023-021-02162-z. Orphanet J Rare Dis. 2022. PMID: 35012600 Free PMC article.
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), pr …
BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediat …
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Cabet S, Lesca G, Labalme A, Des Portes V, Guibaud L, Sanlaville D, Pons L. Cabet S, et al. Eur J Med Genet. 2020 Jun;63(6):103897. doi: 10.1016/j.ejmg.2020.103897. Epub 2020 Feb 22. Eur J Med Genet. 2020. PMID: 32092440
Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairment or in association with psychomotor retardation and cerebellar atrophy. ...Similarly, brain MRI, pe …
Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual i …
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G. Piro E, et al. Ital J Pediatr. 2020 Sep 24;46(1):140. doi: 10.1186/s13052-020-00903-7. Ital J Pediatr. 2020. PMID: 32972427 Free PMC article.
At 5 months brain Magnetic Resonance Imaging showed diffuse cortical atrophy, hypoplasia of corpus callosum, cerebellar vermis hypoplasia, and unfolded hippocampi. ...CONCLUSIONS: We first characterized the clinical and molecular features of a novel LRPPRC variant i …
At 5 months brain Magnetic Resonance Imaging showed diffuse cortical atrophy, hypoplasia of corpus callosum, cerebellar vermis …
A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
Seeman P, Paderova K, Benes V Jr, Sistermans EA. Seeman P, et al. Int J Mol Med. 2002 Feb;9(2):125-9. Int J Mol Med. 2002. PMID: 11786921
Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor retardation, visual and hearing impairment have been observed in the patient since the age of 6 weeks. White matter abn …
Hyperbilirubinemia and bronchopneumonia and early stridor complicated his neonatal period. Diffuse hypotonia, nystagmus, psychomotor …
Marinesco-Sjögren syndrome: report of one case.
Chou YH, Lin MY, Wang PJ, Wang TR, Shen YZ. Chou YH, et al. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 May-Jun;33(3):212-7. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992. PMID: 1514415
A three-year-old Taiwanese boy with Marinesco-Sjogren syndrome is reported. Psychomotor retardation had been noticed since early infancy with hypotonia, muscle weakness, delayed motor milestones and imbalance in sitting and standing. Bilateral visual impai …
A three-year-old Taiwanese boy with Marinesco-Sjogren syndrome is reported. Psychomotor retardation had been noticed since ear …
Recent findings on some "new" neurometabolic diseases.
Palo J, Santavuori P, Haltia M. Palo J, et al. Riv Patol Nerv Ment. 1976 Aug;97(4):191-8. Riv Patol Nerv Ment. 1976. PMID: 1032035
The main clinical findings in a infantile type of neuronal ceroid-lipofuscinosis (INCL) are psychomotor retardation, visual failure, and a virtually isoelectric E.E.G. at the final stage of the disease. The symptoms of this hereditary disorder first appear be …
The main clinical findings in a infantile type of neuronal ceroid-lipofuscinosis (INCL) are psychomotor retardation, visual …