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Differential
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aciduria
acrocyanosis
adverse drug reaction
algorithm
ammonia
anticonvulsants
aspartate aminotransferase
ataxia
autism
autoantibodies
autoimmune basal ganglia encephalitis
autoimmune disease
B 12 metabolism, defective
bacterial infection
basal ganglia, lesion of
basal ganglia, lesion, bilateral
behavioral disorder
brain atrophy
bruising
BUN, elevated
CAT scan
CAT scan, abnormal
CAT scan, chest
caudate nucleus, lesion of
central nervous system, infection of
cerebellar vermis
cerebral cortical atrophy
cerebral palsy
chest x-ray, abnormal
children
choreoathetosis
chromosomal abnormality
chromosome 6
cobalamin C deficiency
cognition
cognitive delay
confusion
creatine phosphokinase(CPK)elevated
cultured skin fibroblasts
D-dimer
deep gray nuclei
dementia
dentate nuclei
dentate nuclei, lesion of
developmental retardation
dopa responsive dystonia
drug induced neurologic disorders
dysarthria
dyspnea
dystonia
dystonia, children
dystonia, paroxysmal
dystonic reaction, acute
electroencephalogram, abnormalities of
encephalitis, autoimmune
encephalopathy
encephalopathy, metabolic
enzyme, defect
ethylmalonic aciduria
ethylmalonic encephalopathy
familial
fatigue
ferritin, elevated
gait disorder
gene
gene mutation
genetic neurologic disorders
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
GLUT1 deficiency syndrome
glutaric acidemia
glutaric aciduria
hallucination
homocystinuria
hydrocephalus
hydroxyglutaric aciduria
hyperhomocysteinemia
hyperkalemia
hyponatremia
hyporeflexia
hypotonia
hypsarrhythmia
inborn errors of metabolism
infection
intellectual deficit
lactic dehydrogenase(LDH)
Legionella pneumophilia
Legionnaires'disease
lethargy
leukocytosis
leukoencephalopathy
leukoencephalopathy, differential diagnosis
liver function enzymes
lymphopenia
macrocephaly
megalencephaly
mental retardation
metabolic acidosis
metabolic disorder, primary
methylglutaconic aciduria
methylmalonic acidemia
methylmalonic aciduria
microcephaly
mimics
molecular genetics
movement disorder
movement disorder, treatment of
MRI
MRI, abnormal
MRI, diffusion weighted
multiple sclerosis, differential diagnosis of
muscle pain
neurologic disease, diagnoses of
neurotomy
next-generation sequencing
optic atrophy
paraparesis, spastic
petechiae
pneumonia
prognosis
progressive neurologic disorder
propionic aciduria
psychomotor retardation
pulmonary infiltrates
putamen, lesion of
renal failure
reversible neurologic disorder
review article
rhabdomyolysis
seizure
seizure, children
self-mutilation
semialdehyde dehydrogenase deficiency
serum alanine aminotransferase
spasticity
striatal encephalitis
striatum, lesion of
symmetric brain lesions
systemic illness
treatment of neurologic disorder
urea-cycle enzymopathies
urine test for metabolic disorders
vigabatrin
visual acuity, decreased
white matter disease
white matter disease, subcortical
workup
Showing articles 0 to 14 of 14

Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024

Clinicopathologic Conference, Legionella Infection Complicated by Rhabdomyolysis
NEJM 391:1039-1048, Case 29-2024, 2024

An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013

A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
Neurol 79:e63, Komatsuzaki, S.,et al, 2012

3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010

Vigabatrin Improves Paroxysmal Dystonia in Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 68:1320-1321, Leuzzi,V.,et al, 2007

Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003

Adult Onset Glutaric Aciduria Type I Presenting with a Leukoencephalopathy
Neurol 59:1802-1804, Bahr,O.,et al, 2002

Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989

Megalencephaly in the Neonatal Period as the Initial Manifestation of Glutaric Aciduria Type 1
J Pediatr 114:1004-1006, Iafolla,A.K.,et al, 1989

Hereditary Defect of Cobalamin Metabolism (cblG Mutation) Presenting as a Neurologic Disorder in Adulthood
NEJM 318:1738-1741, 1752-17541988., Carmel,R.,et al, 1988



Showing articles 0 to 14 of 14