Search Results

Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.

• Authors : Owen, Mallory J.; Lenberg, Jerica; Feigenbaum, Annette

Subjects: DRIED blood spot testing; SULFITE oxidase; GENETIC disorders

• Source: Cold Spring Harbor Molecular Case Studies; Jun2021, Vol. 7 Issue 3, p1-9, 9p

Record details

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.

• Authors : Sayed, Jamal; Nasir, Abdallah; Sayed, Ahmed Gamal

Subjects: NEWBORN infants; ETIOLOGY of diseases; EPILEPSY

• Source: Clinical Case Reports; Jul2024, Vol. 12 Issue 7, p1-6, 6p

Record details

Structural Insights into Sulfite Oxidase Deficiency.

• Authors : Karakas, Erkan¹; Wilson, Heather L.²; Graf, Tyler N.²

Subjects: *OXIDASES; *GENETIC disorders; *MOLYBDENUM

• Source: Journal of Biological Chemistry. 9/30/2005, Vol. 280 Issue 39, p33506-33515. 10p. 2 Color Photographs, 3 Diagrams, 3 Charts, 2 Graphs.

Record details

Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.

• Authors : Kaczmarek, Alexander Tobias^1,2 (AUTHOR); Bahlmann, Nike¹ (AUTHOR); Thaqi, Besarta¹ (AUTHOR)

Subjects: *MISSENSE mutation; *CEREBRAL atrophy; *GENETIC disorders

• Source: Molecular Genetics & Metabolism. Sep2021, Vol. 134 Issue 1/2, p188-194. 7p.

Record details

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.

• Authors : Borgio, J. Francis

Subjects: ARABS; MEDICAL genetics; MOLECULAR geneticsMIDDLE East; EAST Asia

• Source: Archives of Medical Science; May2023, Vol. 19 Issue 3, p765-783, 19p

Record details

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.

• Authors : Bruwer, Zandré; Al Ubaidani, Salwa; Al Kharusi, Khalsa

• Source: Journal of Community Genetics; Jun2022, Vol. 13 Issue 3, p303-311, 9p

Record details

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.

• Authors : Serrano, Mercedes; Lizarraga, Isabel; Reiss, Jochen

Subjects: GENETIC disorders; BRAIN abnormalities; MOLYBDENUM

• Source: Pediatric Radiology; Oct2007, Vol. 37 Issue 10, p1043-1046, 4p, 2 Black and White Photographs

Record details

Treatable inherited metabolic epilepsies.

• Authors : Hundallah, Khalid; Tabarki, Brahim

Subjects: GENETIC disorders; EPILEPSY; DIAGNOSIS

• Source: Neurosciences; Jul2021, Vol. 26 Issue 3, p229-235, 7p

Record details

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

• Authors : Ortigoza-Escobar, Juan Darío

Subjects: INBORN errors of metabolism; MOVEMENT disorders; GENETIC disorders

• Source: Frontiers in Neurology; 11/13/2020, Vol. 11, pN.PAG-N.PAG, 23p

Record details

Neonatal Seizures: Diagnosis, Etiologies, and Management.

• Authors : Ziobro, Julie; Shellhaas, Renée A.

Subjects: SEIZURES (Medicine); GENETIC disorders; ETIOLOGY of diseases

• Source: Seminars in Neurology; 2020, Vol. 40 Issue 2, p246-256, 11p

Record details