Moeenaldeen D. Sayed-Al

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 13 publications

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.

Journal: American journal of medical genetics. Part A

Published: June 24, 2018

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Journal: Human mutation

Published: May 14, 2018

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Journal: International journal of pediatric otorhinolaryngology

Published: November 16, 2017

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].

Journal: Molecular genetics and metabolism

Published: November 14, 2017

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

Journal: Molecular genetics and metabolism reports

Published: January 25, 2017

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.

Journal: Intractable & rare diseases research

Published: September 28, 2016

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Journal: Molecular genetics and metabolism

Published: March 09, 2016

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Journal: Molecular genetics and metabolism

Published: June 27, 2014

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Journal: Annals of Saudi medicine

Published: June 05, 2014

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Journal: Molecular genetics and metabolism

Published: January 18, 2014

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Journal: American journal of human genetics

Published: February 07, 2013

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.

Journal: Gene

Published: December 25, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026