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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 50 to 70 of 70 << Previous

Deficiency of Arylsulfatase B in 2 Brothers Aged 40 & 38 Years (Maroteaux-Lamy Syndrome, Type B)
Ann Neurol 6:315-325, Pilz,H.,et al, 1979

Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978

Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977

Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

Ophthalmoplegia as a Sign of Metabolic Disease in the Newborn
Neurol 27:971, MacDonald,J.T.,et al, 1977

Low Activities of the Pyruvate & Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia
NEJM 295:62, Blass,J.P.,et al, 1976

Newborn Metabolic Screening:Past & Prospect
NEJM 293:824, Levy,H., 1975

Infantile Metachromatic Leukodystrophy
NEJM 288:1365, 14051973., Leroy,J.,et al, 1973

Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
Neurol 23:1030, Sipe,J.C., 1973

Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972

Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
(Ed) 4th Ed, The C. V. Mosby Co, St. Louis, p. 583, McKusick,V.A., 1972

The Mucopolysaccharidoses
(Ed) , 4th Edition, the C. V. Mosby Co, 1971, Chp. 11, p. p. 521-686., McKusick,V.A., 1971

New Kind of PKU
Pediatrics Consultant Sept 1971, pp 68-70., Johnson,C., 1971

Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970

Hunter's Syndrome, In Recognizable Patterns Of Human Malformation, Genetic, Embryologic, & Clinical Aspects, by Smith
W. B. , Saunders Co. , 1970, 248-249., David,W., 1970

Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966

Inherited Aminoacidopathies Demonstrating Vitamin Dependency
NEJM 281:145, Rosenberg,L., 1965

Morquio's Disease, A Radiologic & Morphologic Study
Pediatrics 34:839-850, Schenk,E.A.&Haggerty,J., 1964

Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962

Metabolic Defects Associated with Mental Retardation
Am J Dis Child 104:401, Garell,D., 1962



Showing articles 50 to 70 of 70 << Previous