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Differential
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abscess, intracerebral
acanthocytosis
aciduria
acute intermittant porphyria
Addison's disease
adrenal biopsy
adrenoleukodystrophy
adrenomyeloneuropathy
adverse drug reaction
agenesis of corpus callosum
agitation
Alexanders disease
algorithm
alopecia
aminoacidopathies
aminoacidurias
ammonia
amniocentesis
anemia
anhidrosis
anorexia nervosa
aphasia
arylsulfatase B
ataxia
ataxia, cerebellar
atlanto-axial subluxation
auditory evoked brainstem potentials
autonomic dysfunction
B 12 deficiency
basal ganglia, lesion of
basal ganglia, lesion, bilateral
Bassen-Kornzweig syndrome
behavioral disorder
biotin
biotin deficiency
biotin deficiency, juvenile form
birth injury
blindness
bone biopsy
bone marrow transplantation
bradykinesia
brainstem
brainstem, lesion of
calcification, heart
calcification, muscle
calcium oxalate crystals
CAT scan
CAT scan, abnormal
cataracts
central nervous system, infection of
cerebellar hemorrhage
cerebellar vermis
cerebral cortical atrophy
cerebral embolism
cerebral embolism, cardiac origin
cerebral infarction
cerebral palsy
cerebro hepato renal syndrome
cerebrospinal fluid
cerebrospinal fluid, abnormal
cerebrospinal fluid, glycine
cerebrospinal fluid, lactic acid concentration
cerebrovascular accident
cerebrovascular accident, infancy and childhood
cerebrovascular accident, mimics
cerebrovascular accident, misdiagnosis
cerebrovascular accident, neonatal
cerebrovascular accident, non atherosclerotic cause of
cerebrovascular accident, recurrent
cerebrovascular accident, young adult
cervical spondylosis
children
chorea
chromosomal abnormality
cirrhosis
cisterna magna, enlarged
Clinical Pathologic Conference(C.P.C.)
Cockayne's syndrome
codfish vertebrae
cognition
cognitive delay
coma
complications
compression neuropathy
confusion
conjunctival biopsy
consanguinity
cornea
cornea, abnormal
cornea, opacification in infancy-causes of
cornea, opacity of
corneal dystrophy
corpus callosum
corpus callosum, hypoplastic
corpus callosum, lesion of
cortical blindness
cortical blindness, transient
cyanide poison
cyst, arachnoid
cystinuria
deafmute
deafness
deep gray nuclei
degenerative diseases of CNS
dementia
dementia, diagnostic evaluation of
dementia, differential diagnosis of
dementia, reversible
dementia, treatment of
dentate nuclei
dentate nuclei, lesion of
depression
dermatitis
developmental evaluation
developmental milestones, loss of
developmental retardation
diarrhea
diet
dissociated sensory loss
DNA probes
drug induced neurologic disorders
dwarfism
dysarthria
dysmorphic
dysostosis multiplex
dysphagia
dyspraxia
dystonia
echocardiogram
edema, pedal
efficacy
electroencephalogram
electroencephalogram, abnormalities of
electroencephalogram, monitoring, continuous
electron microscopy
electronystagmography
electroretinograph
embolism
encephalopathy
encephalopathy, metabolic
encephalopathy, neonatal
enzyme, defect
epileptic encephalopathy
episodic neurologic deficits
exercise intolerance
eye movement, disorders of
Fabry's disease
facial anomalies
facial appearance, abnormal
facial hypoplasia
failure to thrive
familial
fatty acid, elevated plasma content
feeding disorder
fetal distress
fever
foam cells
fragile-X syndrome
Friedreich's ataxia
frontal bossing
fundus, abnormality of
gait disorder
gangliosidosis GM1
gangliosidosis, generalized
gargoylism
gene mutation
gene therapy
genetic counselling
genetic diagnosis, prenatal
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
genu valgum
glaucoma
globus pallidus, infarction
globus pallidus, lesion of
globus pallidus, lesion of, bilateral
GLUT1 deficiency syndrome
glycine
glycogen storage disease
grimacing
growth retardation
Hallervorden Spatz disease
Hallgren's syndrome
hearing loss
hearing loss, bilateral
hearing problems in children
heart block
heart murmur
hemorrhoids
hepatic encephalopathy
hepatolenticular degeneration(Wilson's disease)
hepatosplenomegaly
heralding manifestation
homocystinuria
Hunter's syndrome
Hurler's syndrome
hydrocephalus
hydronephrosis
hydroxyglutaric aciduria
hyperamylasemia
hyperglycinemia
hyperglycinemia, nonketotic
hyperhomocysteinemia
hypertension
hypoglycorrhachia
hypotonia
hypotonia, infants
hypoxic-ischemic leukoencephalopathy
ileus, paralytic
imbalance
inborn errors of metabolism
insulin resistance
intellectual deficit
intellectual deterioration
intelligence quotient
internal capsule
internuclear ophthalmoplegia, bilateral
intraventricular hemorrhage
karyotyping
Kearns-Sayre syndrome
keratoconjunctivitis
keratoconus
ketoacidosis
Korsakoff's psychosis
Krabbe's disease
kyphoscoliosis, neurologic causes of
lactate
lactic acidemia
Lafora's disease
Laurence-Moon-Bardet-Biedl syndrome
lead poisoning
Leigh's disease
Leigh's disease, adult variety
lens, dislocation of
lens, ectopic
leucine
leukodystrophy
life expectancy
lipid storage disorder of CNS
lipid storage myopathy
livedo reticularis
liver biopsy
lysosomal storage disease
lysosomes, abnoral
macrocephaly
macular degeneration
malformation, CNS, congenital
manganese intoxication
melanomatosis, primary malignant
MELAS syndrome
mental retardation
metabolic acidosis
metabolic disorder, primary
metabolic disorder, primary-screening tests
metachromatic leukodystrophy
methylmalonic acidemia
microcephaly
microspherophakia
midbrain, infarction of
midbrain, lesion of
migraine
mimics
misdiagnosis
mitochondrial disease
molecular genetics
molybdenum cofactor deficiency
Morquio syndrome
motor neuron disease
movement disorder
movement disorder, extrapyramidal
MRI
MRI, abnormal
MRI, disappearing lesion on
MRI, high signal foci on
MRI, high signal intensity of basal ganglia
MRI, serial
MRI, spine
MRI, T1 weighted high signal foci
MRS
mucopolysaccharidoses
mucopolysacchariduria
multiple sclerosis, differential diagnosis of
muscle biopsy
muscle weakness
myelopathy
myoclonic jerks
myopathy, mitochondrial
myopia
nausea and vomiting
neonatal epilepsy syndromes
neonatal epileptic encephalopathy
neoplasm, metastatic to CNS
neoplasm, metastatic to CNS-differential diagnosis of
neoplasm, primary intracerebral, presenting as CVA
neoplasm, primary of CNS
nephrocalcinosis
nerve conduction studies
neuritis
neuroaxonal dystrophy
neurologic disease
neurologic disease, diagnoses of
neurologic evaluation
neurologic examination
neurologic testing
neuronal ceroid-lipofuscinosis
neuropathology
neuropathy
neuropathy, hereditary peripheral
neuropathy, peripheral
neurotransmitter
Niemann-Pick disease
night blindness
nose, abnormal
obesity
occipital lobe, lesion of
ochronosis
ocular myopathy
ophthalmoplegia
ophthalmoplegia, neonatal
ophthalmoplegia, plus syndrome
optic atrophy
optic nerve
optic neuropathy
ornithine transcarbamylase deficiency
osteoarthrosis
osteoporosis
oxalosis, primary
pain
pain, abdominal
pancreatitis
papilledema
paraparesis, spastic
Parkinsonism syndrome
paroxysmal neurologic deficits
pectus carinatum
pectus excavatum
peroxisomal disease
peroxisomes
phenylketonuria
phenylketonuria, maternal
pigmentary retinopathy
polycythemia, secondary
polydactyly
porphyria
posterior leukoencephalopathy syndrome
practice guidelines
pregnancy, neurologic complications in
premature infant
prenatal diagnosis by amniocentesis
prognathism
prognosis
progressive neurologic disorder
proteinuria
pseudoretinitis pigmentosa
psychiatric disorder
psychiatric problems in neurologic disorders
psychological testing
psychological testing, children
psychomotor retardation
psychosis
pyramidal tract dysfunction
pyridoxine
pyridoxine deficiency
pyruvate dehydrogenase deficiency
pyruvate metabolism, abnormality of
quadriparesis
quadriplegia
radiculopathy
ragged-red fibers
rash
refractive errors
Refsum's disease
renal stones
respiratory failure
retinal degeneration
retinal lesion
retinitis pigmentosa
retinopathy
Rett's syndrome
review article
RFLPs
safety
Sanfilippo syndrome
Schilder's disease
schizophrenia
sclerae, hyperpigmented
scoliosis
scoliosis, neurologic association with
screaming
seizure
seizure, children
seizure, complications following
seizure, diagnosis of
seizure, etiology of
seizure, intractable
seizure, neonatal
seizure, pyridoxine dependent
seizure, treatment of
seizure, workup of
sensorineural hearing loss
serum lipase, elevated
short neck
short stature
skin, biopsy
skin, lesions in neurologic disorders
sphingolipodoses
Spielmeyer Vogt syndrome
spinal cord
spinal cord, compression of
spinal cord, lesion of
spinocerebellar degeneration
splenomegaly
spondylolysis
stem cell transplantation
steroid therapy, CNS treatment and complications with
subdural hematoma
substantia nigra
sweating, abnormality of
symmetric brain lesions
tachycardia
tapetoretinal degeneration
term infant
tetrahydrobiopterin
thiamine
tongue, enlarged
transketolase
treatment of neurologic disorder
urea-cycle enzymopathies
uremia
uric acid, low
urinary incontinence
urine test for metabolic disorders
urine, dark
Usher's syndrome
varicose veins
visual acuity, decreased
visual field defect
visual fields, constricted
visual loss
vitamin deficiency
walking, difficulty with
weakness
weakness, acute
weakness, generalized
Wernicke's encephalopathy
white matter disease
workup
Showing articles 0 to 50 of 70 Next >>

Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023

Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021

Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021

Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018

Facial Grimacing and Sensorineural Hearing Loss in a Woman with Cirrhosis of the Liver
Neurol 87:e239, Sgobbi de Souza, P.V.,et al, 2016

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia
AJNR 36:194-201, Baker, E.H.,et al, 2015

Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014

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

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome
JAMA Neurol 70:1440-1444, Leen, W.G.,et al, 2013

Acute Intermittent Porphyria Presenting as Acute Pancreatitis and Posterior Reversible Encephalopathy Syndrome
Acta Neurol Taiwan 17:177-183, Shen, F.,et al, 2008

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

Neonatal Epileptic Encephalopathy
Lancet 361:1614, Clayton,P.T.,et al, 2003

Brain Magnetic Resonance Imaging in 23 Patients with Mucopolysaccharidoses and the Effect of Bone Marrow Transplantation
Ann Neurol 50:79-92, Seto,T.,et al, 2001

Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001

Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998

Mucopolysaccharidosis III (Sanfilippo Syndrome) Type B:Cranial Imaging in Two Cases
J Comput Assist Tomogr 21:897-899, Petitti,N.,et al, 1997

Maternal Phenylketonuria:Magnetic Resonance Imaging of the Brain in Offspring
J Pediatr 128:770-775, Levy,H.L.,et al, 1996

Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995

Conditions That Mimic Stroke in the Emergency Department
Arch Neurol 52:1119-1122, Libman,R.B.,et al, 1995

The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults
Neurol 41:794-798, Coker,S.B., 1991

Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990

Agenesis of the Corpus Callosum:A Marker for Inherited Metabolic Disease
Neurol 39:847-848, Kolodny,E.H., 1989

Cardioembolic Stroke in Primary Oxalosis with Cardiac Involvement
DiPasquale. G. , et al, Stroke 20:1403-14069., , 1989

Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988

The Reversible Dementias:Do They Reverse?
Ann Int Med 109:476-486, Clarfield,A.M., 1988

Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
J Pediatr 113:1022-1027, Heidenreich,R.,et al, 1988

Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987

A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
Ann Neurol 21:230-231, 240-2491987., Moser,A.B.,et al, 1987

Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
Ann Neurol 20:364-366, Korf,B.,et al, 1986

Ornithine Transcarbamylase Deficiency-A Cause of Bizarre Behavior in a Man
NEJM 315:744-747, DiMagno,E.P.,et al, 1986

Bone-Marrow Transplantation for Neurovisceral Storage Disorders
Editorial, Lancet 2:788-7891986., , 1986

Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984

Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
Arch Neurol 41:1293-1296, Dave,P.,et al, 1984

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Lafora Disease:Liver Histopathology in Presymptomatic Children
Ann Neurol 14:86-89, Baumann,R.J.,et al, 1983

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Inborn Errors of Metabolism
Ann Neurol 11:221-232, Kolodny,E.H.,et al, 1982

Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981

An Ultramicroscopic Study of Skin & Conjunctival Biopsies in Chronic Neuro. Disorders of Childhood
Ann Neurol 9:163-173, Arsenio-Nunes,M.L.,et al, 1981

Brainstem Auditory Evoked Response in the Diagnosis of Pediatric Neurologic Diseases
Neurol 31:832-840, Hecox,K.E.,et al, 1981

Biochemical Genetics Of Neurologic Disease
NEJM 305:1181-1193, Rosenberg,R.N., 1981

Myelopathy in Mucopolysacchariodsis Type II (Hunter Syndrome)
Ann Neurol 7:382-385, Ballenger,C.E.,et al, 1980

Use of Adrenal Biopsy in Diagnosing Adreno-leukomyeloneuropathy
Arch Neurol 37:634-636, Weiss,G.M.,et al, 1980

Compressive Myelopathy in Maroteaux-Lamy Syndrome:Clinical & Pathological Findings
Ann Neurol 8:336-340, Young,R.,et al, 1980



Showing articles 0 to 50 of 70 Next >>