Neudle.com: enzyme defect

Neurology Specific Literature Search

Differential
(Click to cross reference)

abdominal muscle paralysis

acetylcholine in CNS

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

acyl CoA dehydrogenase deficiency

adenosine deaminase deficiency

adrenoleukodystrophy

adrenomyeloneuropathy

adult polyglucosan body disease

advances in neurology

adverse drug reaction

agalsidase alfa

alexia with agraphia

alpha galactosidase A deficiency

alpha glucosidase

alpha-fetoprotein

alveolar hypoventilation

Alzheimer's disease

aminoacidopathies

aminoacylase 1 deficiency

anal wink response

anemia, hemolytic

aneurysm, intracranial

aneurysm, multiple intracranial

angiotensin-converting enzyme

angiotensin-converting enzyme, inhibitors

animal exposure

anorexia nervosa

anterior horn cell disease

anticoagulant, complications of

anticoagulant, treatment

anticoagulant, treatment in CVD

anticonvulsants

anticonvulsants, blood level determination of

anticonvulsants, compliance

anticonvulsants, hypersensitivity syndrome

anticonvulsants, teratogenicity of

anticonvulsants, untoward effects of

apraxia of eye movements

aromatic amino acid decarboxylase deficiency

arrhythmia, cardiac

arterial dissection, carotid

arthropathy, neuropathic

arylsulfatase A

ascending paralysis

aspartate aminotransferase

ataxia, cerebellar

atrial fibrillation

atrial fibrillation, nonvalvular

atrioventricular block

autonomic dysfunction

basal ganglia, calcification of

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basophilic stippling of red blood cells

behavioral disorder

biotin deficiency

biotinidase deficiency

bladder dysfunction

blood dyscrasias, neurologic findings with

bone marrow suppression

bone marrow transplantation

brain natriuretic peptide

brainstem, infarction of

brainstem, lesion of

bulimia nervosa

burning feet, differential diagnosis of

burning paresthesia

calcification, intracranial

calf hypertrophy

Canavan's disease

carbamyl phosphate synthetase-I deficiency

carbonic anhydrase II deficiency

cardiac enzymes

cardiovascular disease

carnitine deficiency myopathy

carotid angiogram

carotid artery occlusion, neck

CAT scan, abdomen

CAT scan, abnormal

CAT scan, angiography

CAT scan, dense artery sign

CAT scan, emission, abnormal

CAT scan, false negative

caudate nucleus, lesion of

cerebellar atrophy, primary

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemorrhage

cerebellar infarction

cerebellar lesion

cerebellar vermis

cerebral artery, encasement

cerebral cortical atrophy

cerebral infarction

cerebral infarction, hemorrhagic

cerebral infarction, subcortical

cerebral ischemia

cerebral venous thrombosis

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, enzymes in

cerebrospinal fluid, glycine

cerebrospinal fluid, oligoclonal IgG in

cerebrospinal fluid, protein of

cerebrospinal fluid, proteincytologic dissociation

cerebrotendinous xanthomatosis

cerebrovascular accident

cerebrovascular accident, cryptogenic

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, multiple

cerebrovascular accident, non atherosclerotic cause of

cerebrovascular accident, prevention of

cerebrovascular accident, recurrent

cerebrovascular accident, thrombolytic agents in treatment

cerebrovascular accident, young adult

cerebrovascular disease

cerebrovascular disease, cardiovascular disease with

ceruloplasmin, serum

chelation therapy

chemotherapy, CNS treatment and complications with

cherry red spot

cherry red spot-myoclonus syndrome

choline acetyltransferase

choline chloride

choreoathetosis

chromosomal abnormality

chronic graft versus host disease

cirrhosis, infancy

Clinical Pathologic Conference(C.P.C.)

codfish vertebrae

coenzyme Q10 deficiency

cogwheel rigidty

color desaturation

compression fracture

conduction block

congenital birth defects

congenital malformation

congenital malformation, non CNS

congestive heart failure

contractures, joint

conus medullaris, lesion of

cornea, abnormal

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

cranial nerve enlargement

cranial nerve palsies

cranial neuropathy

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

creatinine, elevated

cultured skin fibroblasts

cytochrome c oxidase

cytochrome c oxidase, deficiency

deep gray nuclei

deficiency of ADA2

degenerative diseases of CNS

delay in diagnosis

dementia, presenile

demyelinating disease

dentate nuclei, lesion of

dermatomyositis

developmental milestones, loss of

developmental retardation

diabetes insipidus

diagnostic criteria

diaphragmatic paralysis

difficulty climbing stairs

dilantin, hypersensitivity to

disability, neurological

distal muscle atrophy

distal muscle weakness

dopa responsive dystonia

dropped head syndrome

drug interactions

dysdiadochokinesia

dysostosis multiplex

dystonia, children

dystonic reaction, acute

dystrophic calcification

eating disorder

edema, periorbital

ejection fraction

ejection fraction, abnormal

ejection fraction, abnormal, transient

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electron microscopy

emergencies, neurologic

emotional lability

encephalitis, viral

encephalopathy, neonatal

encephalopathy, progressive

endarterectomy, carotid

enzyme treatment

enzyme, induction

enzyme, muscle disease

epidemiology of neurology

erythema migrans

esophageal varices

evoked potentials

exercise intolerance

eye movement, disorders of

eye movement, painful

Fabry's disease

facial anomalies

facial appearance, abnormal

facial expression abnormality

facial hypoplasia

facial nerve palsy

facial nerve palsy, bilateral

facial weakness

factor Xa inhibitor

failure to thrive

Farber's disease

fatty acid, elevated plasma content

feeding disorder

fibrinolytic agents

fine motor function, impaired

fingernails, abnormal

flow study, carotid artery

flu-like illness

fornix, lesion of

fracture, pathologic

Fragile-X associated tremor/ataxia-syndrome

fragile-X syndrome

frontal bossing

frontal lobe, behavior with disease of

frontal lobe, lesion of

fundus, abnormality of

galactocerebrosidase

gangliosidosis GM1

gangliosidosis GM2

gangliosidosis GM2-AB variant

gastroenteritis

Gaucher's disease

genetic counselling

genetic diagnosis

genetic diagnosis, prenatal

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann syndrome

Gilles de la Tourette syndrome

globus pallidus

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucocerebrosidase

glutamate dehydrogenase deficiency

glutaric acidemia

glutaric aciduria

glycogen debranching enzyme deficiency

glycogen storage disease

Gowers maneuver

granulomatous disease

growth retardation

Guillain Barre syndrome

Guillain Barre syndrome, differential diagnosis of

Hallervorden Spatz disease

Hallervorden Spatz disease, late onset

hallucination, auditory

hallucination, visual

headache, progressive

headache, severe

headache, thunderclap

heart block, complete

heart wall motion dysfunction

heavy metal intoxication

hematopoietic tissue, extramedullary

hematuria, microscopic

hemianopia, homonymous

hemochromatosis

hemoglobin abnormality, neurologic complications of

hemorrhagic diathesis

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatosplenomegaly

heralding manifestation

herniated disc, thoracic

herpes simplex encephalitis

herpes zoster, disseminated

hexosaminidase-A

hexosaminidase-A and B

histochemistry of muscle

Howell-Jolly bodies

Hurler's syndrome

hydrocephalus, normal pressure

hydroxytryptophan L-5(L-5 HTP)

hyperammonemic encephalopathy

hyperamylasemia

hyperbilirubinemia

hyperglycinemia

hyperhomocysteinemia

hyperphosphatasia

hypersensitivity reaction

hypoalbuminemia

hypogammaglobulinemia

hypomyelination

hypothalamus, disturbance of

hypotonia, infants

iatrogenic neurologic disorders

ileus, paralytic

immunosuppression

immunosuppressive agents

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, intracytopasmic

inclusion body myositis

incontinence, fecal

infection, recurrent

insulin resistance

intellectual deficit

intellectual deterioration

intelligence quotient

interferon beta 1-a

internal capsule

internuclear ophthalmoplegia

internuclear ophthalmoplegia, unilateral

intracerebral hemorrhage

ischemic exercise test

Kayser-Fleischer ring

Kearns-Sayre syndrome

Korsakoff's psychosis

Krabbe's disease

kyphoscoliosis, neurologic causes of

lactic dehydrogenase(LDH)

lacunar infarction

learning disability

learning disability, in children

Leber's hereditary optic neuropathy

left-right orientation

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

lens, dislocation of

Lesch-Nyhan syndrome

leukocyte enzyme abnormality

leukoencephalopathy

level of consciousness, decreased

life expectancy

lipid lowering agent

lipid storage disorder of CNS

livedo reticularis

liver function enzymes

liver transplantation

Lowe's syndrome

lymphadenopathy

lymphoma involving CNS

lysosomal storage disease

lysosomes, abnoral

malformation, CNS, congenital

Marcus Gunn pupil

McArdle's disease

meconium staining

melanomatosis, primary malignant

memory, defect of recent

memory, impairment of

meningeal biopsy

meningeal enhancement

mental retardation

mental status, abnormal

mesial temporal lobe

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

microspherophakia

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

mitochondrial disease

mitochondrial encephalomyopathy

molecular genetics

monoclonal antibodies

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, demyelinating disease

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, eye of tiger sign

MRI, hypointense signal foci on

MRI, mass effect on

MRI, paramagnetic effect

MRI, vessel wall

MRI, vessel wall enhancement

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, relapsing

multiple sclerosis, treatment of

multiple system atrophy

muscle atrophy, progressive

muscle hypertrophy

muscle phosphofructokinase deficiency

muscle phosphorylase deficiency

muscle stiffness

muscle strength, testing

muscle tenderness

muscle wasting, diffuse

muscle weakness

muscle weakness, insidious onset of

muscle weakness, proximal

muscular dystrophy

muscular dystrophy, central nervous system abnormality

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, carrier

muscular dystrophy, Duchenne, neonatal screening

muscular dystrophy, Duchenne, presymptomatic detection

myeloneuropathy

myocardial infarction

myoclonic jerks

myopathy, acute

myopathy, distal, vacuolar

myopathy, genetic

myopathy, metabolic

myopathy, mitochondrial

myopathy, necrotizing

myopathy, vacuolar

myotonic discharges

nausea and vomiting

neck tenderness

neonatal screening, genetic neurologic disorders

neoplastic angioendotheliosis

nerve conduction studies

neuraminidase deficiency

neuritis, heavy metals causing

neurocardiology

neurogenic bladder

neurologic complications of, surgery

neurologic complications of, systemic disease

neurologic disease, diagnoses of

neurologic examination

neurologic signs

neuromuscular disease, electrodiagnosis of

neuropathy, ataxia, retinitis pigmentosa

neuropathy, ischemic

neuropathy, painful

neuropathy, peripheral

neuropathy, sensory

neuropathy, toxic

neurotransmitter

Niemann-Pick disease

NMDA antagonists

obstetric neurologic injuries

oculogyric crisis

old age, neurology of

ophthalmoplegia

ophthalmoplegia, progressive external

opportunistic infection

optic chiasm, enlarged

optic disc edema

optic nerve, enlarged

optic neuropathy

oral contraceptives

ornithine transcarbamylase deficiency

pain, abdominal

paraparesis, spastic

paraspinal muscle

paraspinal muscle weakness

paresthesias, feet

paresthesias, hands

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal nocturnal hemoglobinuria

PAS positive material in the brain

patient information and support

pectus excavatum

pediatric neurology

pericardial effusion

peripheral blood smear

peripheral blood smear, abnormal

peroxisomal disease

personality change

phenylketonuria

phosphorylase b kinase deficiency

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pleural effusion

polyglucosan body

polyglucosan body disease

polymerase chain reaction

Pompe's disease of glycogen storage

position sensation, abnormal

postpartum coma

postural abnormality

practice guidelines

precipitating factors

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

progressive multifocal leucoencephalopathy

progressive neurologic disorder

prolactin, elevated

proprioception, abnormal

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

putamen, lesion of

pyramidal tract

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

pyruvate-kinase deficiency anemia

radiation therapy, CNS treatment and complications with

rectal sphincter tone, decreased

remote effect of cancer on the nervous system

renal tubular acidosis

respiratory failure

respiratory tract infection

retinal degeneration

reversible cerebral vasoconstrictive syndromes

reversible neurologic disorder

Reye's syndrome

risk-benefit assessment

risus sardonicus

Sandhoff's disease

Sanfilippo syndrome

sarcoidosis, CNS

scoliosis, neurologic association with

second wind phenomena

seizure, children

seizure, neonatal

seizure, pregnancy

seizure, psychomotor-temporal lobe

seizure, treatment of

seizure, treatment of, monotherapy

self-mutilation

semialdehyde dehydrogenase deficiency

serologic testing

serum alanine aminotransferase

sickle cell crisis

sickle cell disease

skin, lesions in neurologic disorders

slit lamp examination

small vessel disease

sodium valproate

sodium valproate, toxicity

speech disorder

speech disorder, childhood

speech, delayed development of

sphingolipodoses

spinal cord, compression of

spinal cord, infarction of

spinal cord, lesion of

spinocerebellar ataxia type 1

spinocerebellar degeneration

spirochete infection

splenic-vein thrombosis

spongy degeneration of brain

startle reaction

stem cell rescue

stem cell transplantation

steroid therapy, CNS treatment and complications with

striatum, lesion of

subarachnoid hemorrhage

subarachnoid hemorrhage, cerebral convexity

substantia nigra

sweating, abnormality of

symmetric brain lesions

systemic illness

Takotsubo cardiomyopathy

tandem gait, ataxic

target red cells

Tay-Sachs disease

temporal lobe, lesion

teratogenic drugs

teratoma, ovarian

testicular teratoma

tetrahydrobiopterin

thalamus, lesion of

thalamus, lesion of-bilateral

thrombin inhibitor

thrombocytopenia

tissue plasminogen activator, intravenous

tone, muscle, increased

tongue, enlarged

tongue, weakness

treatment of neurologic disorder

tremor, intention

tremor, wing beating

tremor, writing

trientine dihydrochloride

tyrosine hydroxylase deficiency

ultrasonography

ultrasonography, head, fetus-neonate

umbilical-cord blood transplantation

unconsciousness

urea-cycle enzymopathies

urinary frequency

urinary incontinence

urinary urgency

urine test for metabolic disorders

urine test in toxic screen

vertebral-basilar insufficiency

vertigo, episodic

viral infection

viral infection, CNS

visual acuity, decreased

visual acuity, decreased, monocular

visual field defect

visual loss, slow-unilateral

vitamin deficiency

vitamin supplementation

walking, difficulty with

weakness, generalized

weakness, progressive

weakness, proximal

Wernicke's encephalopathy

white matter disease

wide based gait

winging of scapula

Showing articles 2100 to 2150 of 3486 << Previous Next >>

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993

Genetic Susceptibility in Familial Multiple Sclerosis not Linked to the Myelin Basic Protein Gene
Lancet 341:1179-1181, Rose,J.,et al, 1993

Tourette's Syndrome in Monozygotic Twins:Relationship of Tic Severity to Neuropsychological Function
Arch Neurol 50:725-728, Randolph,C.,et al, 1993

Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993

Hippocampal Atrophy in Normal Aging, An Association with Recent Memory Impairment
Arch Neurol 50:967-973, Golomb,J.,et al, 1993

Conjugal Alzheimer's Disease:Is There an Increased Risk in Offspring?
Ann Neurol 34:396-399, Bird,T.D.,et al, 1993

The Photic Sneeze Reflex:Literature Review and Discussion
Neurol 43:868-871, Whitman,B.W.&Packer,R.J., 1993

The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993

Migraine Madness:Recurrent Psychosis after Migraine
JNNP 56:416-418, Fuller,G.N.,et al, 1993

Clinicopath Conf
Spongiform Encephalopathy (Creutzfeldt-Jakob Disease) , with Amyloid (KURU) Plaques, Case 17-1993, N, JM 328:66,1993., 1993

Use of Twin Cohorts for Research in Alzheimer's Disease
Neurol 43:261-267, Breitner,J.C.S.,et al, 1993

Memory Evaluation in Alzheimer's Disease, Caregivers'Appraisals and Objective Testing
Arch Neurol 50:92-97, Koss,E.,et al, 1993

Sleep Paralysis
Lancet 341:406-407, Dahlitz,M.&Parkes,J.D., 1993

Real and Imagined Clinicopathological Limits of"Prior Dementia"
Lancet 341:127-129, Brown,P.,et al, 1993

Infectious Prions or Cytotoxic Metabolites?
Lancet 341:159-161, Pablos-Mendez,A.,et al, 1993

Information Processing Efficiency in Chronic Fatigue Syndromes and Multiple Sclerosis
Arch Neurol 50:301-304, DeLuca,J.,et al, 1993

Diag of Occult Muscular Dystrophy:"Chance"Finding of Elevated Serum Aminotransferase Act
J Pediatr 122:254-256, Morse,R.P.&Rosman,N.P., 1993

Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993

Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Neurosarcoidosis:Progress and Clinical Aspects
Neurol 43:8-12, Scott,T.F., 1993

The Neurological Complciations of Sepsis
Ann Neurol 33:94-100, Bolton,C.F.,et al, 1993

Motor Neuron Diseases and Amyotrophic Lateral Sclerosis:GM1 Antibodies and Paraproteinemia
Neurol 43:418-420, Sanders,K.A.,et al, 1993

Hyperintense Globus Pallidus on T1-Weighted MRI in Cirrhotic Pts is Associated with Severity of Liver Failure
Neurol 43:65-69, Pujol,A.,et al, 1993

Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993

Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993

Effects of Tocopherol and Deprenyl on the Progression of Disability in Early Parkinson's Disease
The Parkinson Study Group, NEJM 328:176-1831993., , 1993

Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
Lancet 342:1197-1200, Murphy,D.G.M.,et al, 1993

Twinning and Cerebral Palsy:Experience in Four Northern California Counties, Births 1983 Through 1985
Pediatrics 92:854-858, Grether,J.K.,et al, 1993

Choroido-Cerebral Calcification Syndrome with Retardation
Neurol 43:2387-2389, Singh,B.,et al, 1993

Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993

Copper-Histidine Therapy for Menkes Disease
J Pediatr 123:828-830, Sarkar,B.,et al, 1993

Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993

The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993

Clinicopath Conf
Acquired Demyelinating Neuropathy, ? CIDP, ? Motor Neuropathy with Multifocal Conduction Blocks, Cas, 41-1EJM 329:1182-1190,1993., 1993

Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993

Carbamazepine-Induced Heart Block in Child with Tuberous Sclerosis & Cardiac Rhabdomyoma:Implic for Eval and Follow-up
Ann neurol 34:617-619, Weig,S.G.&Pollack,P., 1993

Transient Epileptic Amnesia-A Clinical Update and a Reformulation
JNNP 56:1884-1190, Kapur,N., 1993

Twin Birth is Not a Risk Factor for Seizures
Neurol 43:2515-2519, Berkovic,S.F.,et al, 1993

Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
Neurol 43:318-325, Wullner,U.,et al, 1993

Clinicopath Conf
Cysticercosis Involving Basal Cisterns of Brain, Case 8-1993, NEJM 328:566-573993., , 1993

Atrial Fibrillation after Acute Stroke
Stroke 24:26-30, Vingerhoets,F.,et al, 1993

Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993

A Population-Based Study of Multiple Sclerosis in Twins:Update
Ann Neurol 33:281-285, Sadovnick,A.D.,et al, 1993

Risk of Stroke in Adults With Cyanotic Congenital Heart Disease
Circulation 87:1954-1959, Perloff,J.K. et al, 1993

Showing articles 2100 to 2150 of 3486 << Previous Next >>