Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.

Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.

Human organoids for rapid validation of gene variants linked to cochlear malformations.

Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Objective: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey.

Methods: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed.

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.

Background: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics.

Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in gene: case report and review of literature.

Objectives: Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. We present herein a case of NCL11 in a patient diagnosed with neuromotor developmental delay, epilepsy, bronchiolitis obliterans and hypothyroidism.

Case Presentation: A 4-year-old male patient was admitted to our clinic with global developmental delay and a medical history that included recurrent hospitalizations for pneumonia at the age of 17 days, and in months 4, 5 and 7.

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

Objectives: In the present study, we aimed to evaluate the genotype-phenotype relation in patients with biotinidase enzyme deficiency based on repeated biotinidase enzyme measurements.

Methods: The hospital file information of patients with biotinidase, enzyme deficiency was assessed retrospectively, and the relationship between the gene mutations analysis results and biotinidase enzyme activity following the first and repeated enzyme activity assessments was analyzed.

Results: One-hundred-ten patients were included.

Cross-Cultural Differences in Stigma Associated with Parkinson's Disease: A Systematic Review.

Background: Stigma is an important social attitude affecting the quality of life (QoL) of people with Parkinson's disease (PwP, PD) as individuals within society.

Objective: This systematic review aimed to 1) identify the factors associated with stigma in PD and 2) demonstrate culture-based diversity in the stigmatization of PwP. We also reported data from the Turkish PwP, which is an underrepresented population.