[HTML][HTML] Neurodegeneration with brain iron accumulation: diagnosis and management
P Hogarth - Journal of movement disorders, 2015 - ncbi.nlm.nih.gov
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited
disorders that share the clinical features of an extrapyramidal movement disorder …
disorders that share the clinical features of an extrapyramidal movement disorder …
Mitochondrial dysfunction, oxidative stress and neuroinflammation in neurodegeneration with brain iron accumulation (NBIA)
I Hinarejos, C Machuca, P Sancho, C Espinós - Antioxidants, 2020 - mdpi.com
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …
group of invalidating and progressive rare diseases that share the abnormal accumulation of …
[HTML][HTML] Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
AM Alazami, A Al-Saif, A Al-Semari, S Bohlega… - The American Journal of …, 2008 - cell.com
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal
syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive …
syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive …
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Abstract First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal
recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in …
recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in …
Neurodegeneration with brain iron accumulation
S Wiethoff, H Houlden - Handbook of Clinical Neurology, 2018 - Elsevier
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group
of inherited rare clinical and genetic entities. Clinical core symptoms comprise a …
of inherited rare clinical and genetic entities. Clinical core symptoms comprise a …
Brain MR imaging findings in Woodhouse-Sakati syndrome
AH Abusrair, S Bohlega, A Al-Semari… - American Journal …, 2018 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Woodhouse-Sakati syndrome is a rare autosomal
recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and …
recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, and …
Phenotypic heterogeneity in Woodhouse–Sakati syndrome: two new families with a mutation in the C2orf37 gene
T Ben‐Omran, R Ali, M Almureikhi… - American journal of …, 2011 - Wiley Online Library
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal
syndrome [also known as Woodhouse–Sakati syndrome (WSS)] is a rare autosomal …
syndrome [also known as Woodhouse–Sakati syndrome (WSS)] is a rare autosomal …
[HTML][HTML] Woodhouse-Sakati Syndrome
SA Bohlega, A Abusrair - 2021 - europepmc.org
Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine
findings of hypogonadism (evident at puberty) and progressive childhood-onset hair …
findings of hypogonadism (evident at puberty) and progressive childhood-onset hair …
Patterns of neurological manifestations in Woodhouse-Sakati syndrome
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive
disease with characteristic neuro-endocrine manifestations. WSS encompasses …
disease with characteristic neuro-endocrine manifestations. WSS encompasses …
Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant
SD Amalnath, Jothivanan, J Oshima… - American Journal of …, 2024 - Wiley Online Library
Woodhouse–Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG
abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 …
abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 …