Saadet Mercimek-Andrews
Overview
Explore the profile of Saadet Mercimek-Andrews including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
74
Citations
917
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Ambrose A, McNiven V, Wilson D, Tempes A, Underwood M, Chau V, et al.
Neurol Genet
. 2025 Jan;
11(1):e200232.
PMID: 39810752
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied...
2.
Portales-Castillo I, Singal R, Ambrose A, Song J, Son M, Goo Y, et al.
JIMD Rep
. 2024 Nov;
65(5):341-353.
PMID: 39544690
Autosomal dominant Fanconi syndrome due to a variant (GATM-FS), causes accumulation of misfolded arginine-glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM-FS presents during childhood and progresses...
3.
Ambrose A, Bahl S, Sharma S, Zhang D, Hung C, Jain-Ghai S, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):424.
PMID: 39533303
Background: Primary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic variants in the mitochondrial genome (mtDNA) or nuclear genome (nDNA) that...
4.
Howie A, Tingley K, Inbar-Feigenberg M, Mitchell J, Angel K, Gentle J, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):393.
PMID: 39443985
Background: To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that...
5.
Nasseri Moghaddam Z, Reinhardt E, Thurm A, Potter B, Smith M, Graham C, et al.
medRxiv
. 2024 Oct;
PMID: 39371127
Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency. Patients commonly exhibit intellectual and developmental disabilities, often accompanied by...
6.
Silveira K, Ambrose A, Athey T, Taylor S, Mercimek-Andrews S, Kannu P
Clin Genet
. 2024 Aug;
106(6):764-768.
PMID: 39212003
CASK (MIM#300172), encoding a calcium/calmodulin-dependent serine protein kinase, is crucial for synaptic transmission and gene regulation during neural development. Pathogenic variants of CASK are known to cause several neurodevelopmental disorders,...
7.
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson A, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108530.
PMID: 38968673
Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) is a rare genetic disorder caused by biallelic variants in the PGM1 gene, leading to the deficiency of the PGM1 enzyme. The most common clinical...
8.
Lam C, Scaglia F, Berry G, Larson A, Sarafoglou K, Andersson H, et al.
Mol Genet Metab
. 2024 Jul;
142(4):108509.
PMID: 38959600
Objective: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC)...
9.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
10.
Armangue T, Whitehead M, Tonduti D, Farina L, Tavasoli A, Vossough A, et al.
AJNR Am J Neuroradiol
. 2024 May;
45(6):769-772.
PMID: 38697787
Background And Purpose: While classic brain MR imaging features of Alexander disease have been well-documented, lesional patterns can overlap with other leukodystrophies, especially in the early stages of the disease...