Add to ORKGIntroduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is characterized by progressive cerebral degeneration with psychomotor deterioration, hypothermia, seizures and characteristic facial appearance with hair abnormalities. Case Presentation: We report on two cases of classical Menkes disease with typical history, (progressive psychomotor deterioration and seizures}, clinical manifestations (cherubic appearance
doi: 10.3389/fncel.2015.00437 Multiple system atrophy (MSA) is a progressive neurodegenerative disea...
Brucellosis is a multisystemic disease that may present with a broad spectrum of clinical manifestat...
In the context of multiple neuroendocrine tumor syndromes, reproductive abnormalities may occur via ...
Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is chara...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
Background: Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We r...
Background: Wilson’s disease is an autosomal recessive genetic disorder resulting from an abnormalit...
Copyright © 2014 Tamer Rizk et al. This is an open access article distributed under the Creative Com...
Purpose: Alagille syndrome is a complex hereditary disorder associated with cardiac, hepatic, skelet...
BackgroundᄏNeurocutaneous melanosis (NCM) is a rare neurocutaneous syndrome charac-terized by the pr...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
syndromes associated with overgrowth in childhood Review article Overgrowth syndromes comprise a div...
Abstract: The Vogt-Koyanagi-Harada (VKH) syndrome is a rare systemic disorder of uveitis, dysacous...
Rahul Ojha,1 Asuri N Prasad1–4 1Department of Pediatrics, 2Section of Pediatric Neurology, 3Di...
INTRODUCTION: Menkes disease is an X-linked inherited disorder of intestinal copper absorption resul...
doi: 10.3389/fncel.2015.00437 Multiple system atrophy (MSA) is a progressive neurodegenerative disea...
Brucellosis is a multisystemic disease that may present with a broad spectrum of clinical manifestat...
In the context of multiple neuroendocrine tumor syndromes, reproductive abnormalities may occur via ...
Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is chara...
We sought to determine the nature of the molecular defect causing Menkes ’ syndrome in the Chinese p...
Background: Pronounced intrafamilial variability is unusual in Menkes disease and its variants. We r...
Background: Wilson’s disease is an autosomal recessive genetic disorder resulting from an abnormalit...
Copyright © 2014 Tamer Rizk et al. This is an open access article distributed under the Creative Com...
Purpose: Alagille syndrome is a complex hereditary disorder associated with cardiac, hepatic, skelet...
BackgroundᄏNeurocutaneous melanosis (NCM) is a rare neurocutaneous syndrome charac-terized by the pr...
Full list of author information is available at the end of the articleBackground MKS is an autosomal...
syndromes associated with overgrowth in childhood Review article Overgrowth syndromes comprise a div...
Abstract: The Vogt-Koyanagi-Harada (VKH) syndrome is a rare systemic disorder of uveitis, dysacous...
Rahul Ojha,1 Asuri N Prasad1–4 1Department of Pediatrics, 2Section of Pediatric Neurology, 3Di...
INTRODUCTION: Menkes disease is an X-linked inherited disorder of intestinal copper absorption resul...
doi: 10.3389/fncel.2015.00437 Multiple system atrophy (MSA) is a progressive neurodegenerative disea...
Brucellosis is a multisystemic disease that may present with a broad spectrum of clinical manifestat...
In the context of multiple neuroendocrine tumor syndromes, reproductive abnormalities may occur via ...
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