Neurogenetic and Metabolic Mimics of Common Neonatal ...

Neurogenetic and Metabolic Mimics of Common Neonatal ... - PubMed

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and ...

Conclusion. Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy ...

Neurogenetic and Metabolic Mimics of Common Neonatal ...

[Show full abstract] recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic AJAP1 variants in individuals with ...

Darrah N. Haffner's research works | Nationwide Children's Hospital ...

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures ...

Neonatal Neuroimaging Findings in Inborn Errors of Metabolism

Individually, metabolic disorders are rare, but overall they account for a significant number of neonatal disorders affecting the central nervous system.

Seminars in Pediatric Neurology, Volume 42 - ClinicalKey

Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders. Article 100972. Burns, William, Chaudhari, Bimal P., and Haffner, Darrah N ...

Neonatal encephalopathy: Etiologies other than hypoxic-ischemic ...

NE due to brain malformations, vascular causes, neuromuscular causes, genetic conditions, neurogenetic disorders and inborn errors of metabolism, central ...

Neonatal encephalopathy and hypoxic–ischemic ... - Nature

Burns, W., Chaudhari, B. P. & Haffner, D. N. Neurogenetic and metabolic mimics of common neonatal neurological disorders. Semin. Pediatr. Neurol ...

Devastating Metabolic Brain Disorders of Newborns and Young Infants

Metabolic disorders of the brain that manifest in the neonatal or early infantile period are usually associated with acute and severe illness.

Neonatal Presentations of Metabolic Disorders - AAP Publications

A newborn can present with an acute metabolic crisis such as hyperammonemia or seizures needing immediate management, with a more chronic clinical picture such ...

Metabolic disorders in the neonate

One of the most important laboratory tests in neonates with a suspected metabolic disorder is the blood ammonia level. It is usually normal or borderline ...

Diagnostic approach in adult-onset neurometabolic diseases

Unlike most non-metabolic neurogenetic diseases, many neurometabolic ... common disease mimics. In these situations, a neurometabolic aetiology should be ...

Approach to Neurological Channelopathies and Neurometabolic ...

Common metabolic diseases in newborns include hypocalcemia (early- and late-onset), hypoglycemic encephalopathy, vitamin B6 deficiency, hyperthyroidism, and ...

Screening of newborns for neurogenetic abnormalities

In the United States and internationally, newborn screening has evolved to include screening for an ever-increasing number of neurometabolic and neurogenetic ...

Treatable inborn errors of metabolism presenting as cerebral palsy ...

... infant brain [1]. CP is the most common cause of physical impairment in the pediatric population with a prevalence of 2–3 per 1000 live ...

Isolated neonatal seizures: when to suspect inborn errors of ...

Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders. W. BurnsB. ChaudhariD. Haffner. Medicine. Seminars in pediatric neurology. 2022. 3 ...

Inborn Errors of Metabolism Masquerading as Hypoxic-Ischemic ...

Although expanded newborn screening using tandem mass spectrometry (MS/MS) undoubtedly will detect many children who have metabolic disorders, ...

Infant gut microbiota contributes to cognitive performance in mice

∙ Chaudhari, B.P. ∙ Haffner, D.N.. Neurogenetic and metabolic mimics of common neonatal neurological disorders. Semin. Pediatr. Neurol. 2022; 42, 100972.

Common metabolic disorder (inborn errors of metabolism) concerns ...

Mental status changes in a newborn can be seen in several underlying common biochemical derangements, such as metabolic acidosis, hyperammonemia ...

Neurometabolic disorders | Brain's Diseases of the Nervous System

The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, ...