Alexander A. Asamoah

Medical Genetics | Pediatrics

411 E Chestnut St # Street2
Louisville, KY 40202

Last Updated: 09/26/2026

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Found 15 publications

Review Article: Overview of Clinical Genetics of Diabetes Mellitus.

Review Article: Overview of Clinical Genetics of Diabetes Mellitus.

Journal: Genes

Published: December 07, 2025

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: July 07, 2023

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.

Journal: International journal of neonatal screening

Published: April 29, 2021

Child Neurology: Triosephosphate isomerase deficiency.

Child Neurology: Triosephosphate isomerase deficiency.

Journal: Neurology

Published: September 03, 2020

Emicizumab Associated Rhabdomyolysis in Hemophilia A.

Emicizumab Associated Rhabdomyolysis in Hemophilia A.

Journal: Clinical hematology international

Published: August 24, 2020

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.

Laboratory evaluation of homocysteine remethylation disorders and classic homocystinuria: Long-term follow-up using a cohort of 123 patients.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 16, 2020

Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1.

Heme and sensory neuropathy: insights from novel mutations in the heme exporter feline leukemia virus subgroup C receptor 1.

Journal: Pain

Published: August 14, 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Journal: Biological psychiatry

Published: March 27, 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: March 09, 2019

Unusual Metabolites in a Patient with Isovaleric Acidemia.

Unusual Metabolites in a Patient with Isovaleric Acidemia.

Journal: Clinical chemistry

Published: December 06, 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Journal: American journal of human genetics

Published: July 20, 2018

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

Journal: Orphanet journal of rare diseases

Published: November 22, 2017

Showing 1-12 of 15

Last Updated: 09/26/2026