Scholarly Works - Book sections
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January 1, 2024
Disorders of pyridoxine (vitamin B6) metabolism affecting the function of the central nervous system include pyridoxine-dependent epilepsy (PDE) due to α-aminoadipic semialdehyde dehydrogenase (antiquitin) deficiency associated with pathogenic variants in ...
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January 1, 2024
Manganese transport across cell membranes is highly regulated to prevent toxic accumulation or deficiency. In recent years, three autosomal recessive disorders of manganese transport have been reported. Patients with biallelic pathogenic variants in SLC30A ...
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January 1, 2023
Seizures are a frequent neonatal emergency associated with a high degree of morbidity and mortality. Seizure is the presenting symptom of a wide range of underlying pathologies. Neonatologists should be comfortable with forming a differential diagnosis, ra ...
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January 1, 2020
Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE) due to antiquitin (ATQ) deficiency, PDE due to abnormalities in pyridoxal 5'-phosphate (PLP) homeostasis protein (PLPHP deficiency, a PLP-responsive epileptic encephalopathy due ...
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Book section
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January 1, 2020
Manganese transport across cell membranes is highly regulated to prevent toxic accumulation or deficiency. In recent years, three autosomal recessive disorders of manganese transport have been reported. Patients with pathogenic variants in SLC30A10 manifes ...
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November 13, 2014
Disorders of pyridoxine metabolism include pyridoxine-dependent epilepsy (PDE), pyridoxal-5′-phosphate- responsive epileptic encephalopathy, and tissue nonspecific isoenzyme of alkaline phosphatase deficiency. This chapter focuses on antiquitin (ATQ) defic ...
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January 1, 2011
The causal disease Definitions and epidemiology Pyridoxine-dependent epilepsy (PDE) is a familial autosomal recessive disorder that results in intractable seizures presenting in newborns and older infants that come under control only after the administrati ...
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https://orcid.org/0000-0002-0099-109X