Neudle.com: enzyme defect

Differential
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abdominal muscle paralysis

acalculia

acetylcholine

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

alpha galactosidase A deficiency

alpha glucosidase

alpha-fetoprotein

alveolar hypoventilation

Alzheimer's disease

aminoacidopathies

aminoacidurias

aminoacylase 1 deficiency

aneurysm, intracranial

aneurysm, multiple intracranial

angiokeratoma

angiotensin-converting enzyme

angiotensin-converting enzyme, inhibitors

ankle edema

anorexia nervosa

anosmia

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

apixaban

apraxia

apraxia of eye movements

areflexia

aromatic amino acid decarboxylase deficiency

arrhythmia, cardiac

arsenic

arterial dissection, carotid

arthropathy, neuropathic

arylsulfatase A

ascending paralysis

ascites

aspartate aminotransferase

atrial fibrillation, nonvalvular

atrioventricular block

autism

autonomic dysfunction

Babinski sign

BAL

basal ganglia, calcification of

basal ganglia, lesion of

basal ganglia, lesion, bilateral

basophilic stippling of red blood cells

behavioral disorder

biotin deficiency

biotinidase deficiency

blacks

bladder dysfunction

blindness

blood dyscrasias, neurologic findings with

bone age

bone marrow suppression

bone marrow transplantation

brainstem, infarction of

burning feet, differential diagnosis of

burning hands

burning paresthesia

calcification, intracranial

calf hypertrophy

Canavan's disease

carbamazepine

carbamyl phosphate synthetase-I deficiency

carbidopa

carbonic anhydrase II deficiency

cardiovascular disease

carnitine deficiency myopathy

carotid angiogram

carotid artery occlusion, neck

CAT scan

CAT scan, abdomen

CAT scan, abnormal

CAT scan, angiography

CAT scan, dense artery sign

CAT scan, emission, abnormal

CAT scan, false negative

cataracts

cathartic

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 palsy

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

children

cholesterol

choline acetyltransferase

choline chloride

chorea

choreoathetosis

chromosomal abnormality

chromosome 20

chromosome 6

chronic graft versus host disease

cirrhosis

cirrhosis, infancy

Clinical Pathologic Conference(C.P.C.)

clofibrate

codfish vertebrae

coenzyme Q10 deficiency

congenital birth defects

congenital malformation

congenital malformation, non CNS

congestive heart failure

conjunctivitis

consanguinity

contractures, joint

conus medullaris, lesion of

coprolalia

cornea, abnormal

cornea, opacification in infancy-causes of

cranial nerve enlargement

cranial nerve palsies

cranial neuropathy

cranial neuropathy, multiple

creatine phosphokinase(CPK)elevated

creatinine, elevated

cry, abnormal

crying

cultured skin fibroblasts

cyst, bone

cystinuria

cytochrome c oxidase

cytochrome c oxidase, deficiency

deep gray nuclei

deficiency of ADA2

degenerative diseases of CNS

delay in diagnosis

dementia

dementia, presenile

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

depression

dermatitis

dermatomyositis

developmental milestones, loss of

developmental retardation

diabetes insipidus

diagnostic criteria

diaphragmatic paralysis

diarrhea

diet

difficulty climbing stairs

dilantin

dilantin, hypersensitivity to

disability, neurological

distal muscle atrophy

distal muscle weakness

DNA probes

DNA sequencing

dopa responsive dystonia

dopamine

drooling

dropped head syndrome

dystonic reaction, acute

dystrophic calcification

ejection fraction, abnormal

ejection fraction, abnormal, transient

electrocardiogram, abnormal

electroencephalogram, abnormalities of

electromyogram

electron microscopy

ELISA

emergencies, neurologic

encephalopathy, neonatal

encephalopathy, progressive

endarterectomy, carotid

enzyme treatment

enzyme, defect

enzyme, induction

enzyme, muscle disease

enzyme, serum

eosinophilia

epidemiology of neurology

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

fatty acid, elevated plasma content

fine motor function, impaired

fingernails, abnormal

fingolimod

floppy infant

flow study, carotid artery

folic acid

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

fucosidosis

fundus, abnormality of

gangliosidosis GM2-AB variant

genetic diagnosis, prenatal

genetic neurologic disorders

genetic screening

genetic testing

Gerstmann syndrome

Gilles de la Tourette syndrome

globoid cells

globus pallidus

globus pallidus, lesion of

globus pallidus, lesion of, bilateral

glucocerebrosidase

glutamate dehydrogenase deficiency

glutaric acidemia

glutaric aciduria

glycine

glycogen debranching enzyme deficiency

glycogen storage disease

glycoprotein

Gowers maneuver

granulomatous disease

growth retardation

Guillain Barre syndrome

Guillain Barre syndrome, differential diagnosis of

Hallervorden Spatz disease

Hallervorden Spatz disease, late onset

hallucination

hallucination, auditory

hallucination, visual

headache, progressive

headache, severe

headache, thunderclap

headbanging

hearing loss

heart block

heart block, complete

heart murmur

heart wall motion dysfunction

heavy metal intoxication

hematopoietic tissue, extramedullary

hematuria, microscopic

hemianopia

hemianopia, homonymous

hemochromatosis

hemoglobin abnormality, neurologic complications of

hemoglobinuria

hemolysis

hemorrhagic diathesis

hepatic encephalopathy

hepatic failure

hepatitis

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatomegaly

hepatosplenomegaly

heralding manifestation

herniated disc, thoracic

herpes simplex encephalitis

herpes zoster

herpes zoster, disseminated

hexosaminidase-A

hexosaminidase-A and B

histochemistry

histochemistry of muscle

hydrocephalus, normal pressure

hydroxytryptophan L-5(L-5 HTP)

hyperammonemic encephalopathy

hypersensitivity reaction

hypertension

hypertonia

hypoalbuminemia

hypogammaglobulinemia

hypothalamus, disturbance of

hypothermia

hypotonia

hypotonia, infants

iatrogenic neurologic disorders

ileus, paralytic

imbalance

immunosuppression

immunosuppressive agents

impotence

impulsivity

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies

inclusion bodies, intracytopasmic

inclusion body myositis

intellectual deterioration

intelligence quotient

interferon beta 1-a

internal capsule

internuclear ophthalmoplegia

internuclear ophthalmoplegia, unilateral

intracerebral hemorrhage

ischemic exercise test

jaundice

Jewish

Kayser-Fleischer ring

Kearns-Sayre syndrome

Korsakoff's psychosis

Krabbe's disease

kyphoscoliosis, neurologic causes of

lactate

lactic dehydrogenase(LDH)

lacunar infarction

L-dopa

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

leukocyte enzyme abnormality

leukodystrophy

leukoencephalopathy

leukopenia

level of consciousness, decreased

levonorgestrel

life expectancy

lipid lowering agent

lipid storage disorder of CNS

livedo reticularis

liver biopsy

liver disease

liver function enzymes

liver transplantation

lymphoma involving CNS

lysosomal storage disease

lysosomes, abnoral

macrocephaly

malformation, CNS, congenital

melanomatosis, primary malignant

MELAS syndrome

memory, defect of recent

memory, impairment of

meningeal biopsy

meningeal enhancement

meningitis

mental retardation

mental status, abnormal

MERRF syndrome

mesial temporal lobe

metabolic acidosis

metabolic disorder, primary

metabolic disorder, primary-screening tests

metachromatic leukodystrophy

metachromatic leukodystrophy, adult onset

microcephaly

microspherophakia

middle cerebellar peduncle, lesion

middle cerebellar peduncle, lesion, bilateral

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoclonal antibodies

mortality

motor neuron disease

movement disorder

movement disorder, extrapyramidal

MRI

MRI, abnormal

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, muscle

MRI, paramagnetic effect

MRI, vessel wall

MRI, vessel wall enhancement

MRS

mucopolysaccharidoses

multiple sclerosis

multiple sclerosis, differential diagnosis of

multiple sclerosis, relapsing

multiple sclerosis, treatment of

multiple system atrophy

muscle atrophy, progressive

muscle phosphofructokinase deficiency

muscle phosphorylase deficiency

muscle spasm

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

myelomalacia

myeloneuropathy

myelopathy

myocardial infarction

myopathy, distal, vacuolar

myopathy, genetic

myopathy, metabolic

myopathy, mitochondrial

myopathy, necrotizing

neonatal screening, genetic neurologic disorders

neoplastic angioendotheliosis

nephritis

nerve biopsy

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

neuropathology

neuropathy

neuropathy, ataxia, retinitis pigmentosa

neuropathy, ischemic

neuropathy, painful

neuropathy, peripheral

obstetric neurologic injuries

oculogyric crisis

old age, neurology of

opened mouth

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

opportunistic infection

optic atrophy

optic chiasm, enlarged

optic disc edema

optic nerve

optic nerve, enlarged

ornithine transcarbamylase deficiency

paraspinal muscle weakness

paresthesias

paresthesias, feet

paresthesias, hands

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

paroxysmal nocturnal hemoglobinuria

PAS positive

PAS positive material in the brain

patient information and support

peripheral blood smear

peripheral blood smear, abnormal

phosphorylase b kinase deficiency

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

pleural effusion

polyglucosan body

polyglucosan body disease

polymerase chain reaction

polymyositis

polyneuropathy

Pompe's disease of glycogen storage

porphyria

position sensation, abnormal

precipitating factors

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognathism

prognosis

progressive multifocal leucoencephalopathy

progressive neurologic disorder

prolactin, elevated

proprioception, abnormal

proteinuria

pseudomyotonia

psychiatric disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

putamen, lesion of

pyramidal tract

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

pyruvate-kinase deficiency anemia

radiation therapy, CNS treatment and complications with

rash

rectal sphincter tone, decreased

recurrent

remote effect of cancer on the nervous system

renal failure

renal stones

renal tubular acidosis

respiratory failure

respiratory tract infection

retinal degeneration

retinopathy

reversible cerebral vasoconstrictive syndromes

reversible neurologic disorder

risk-benefit assessment

scoliosis, neurologic association with

screaming

screening

second wind phenomena

seizure, psychomotor-temporal lobe

seizure, treatment of

seizure, treatment of, monotherapy

seizure, women

self-mutilation

semialdehyde dehydrogenase deficiency

sensory loss

serologic testing

serum alanine aminotransferase

skin, lesions in neurologic disorders

slit lamp examination

slurred speech

small vessel disease

sodium valproate

sodium valproate, toxicity

speech disorder, childhood

speech, delayed development of

sphingolipodoses

spina bifida

spinal cord

spinal cord, compression of

spinal cord, infarction of

spinal cord, lesion of

spinocerebellar ataxia type 1

spinocerebellar degeneration

spirochete infection

splenic-vein thrombosis

splenomegaly

spongy degeneration of brain

SPORTIF trial

startle reaction

stem cell rescue

stem cell transplantation

steroid

steroid therapy, CNS treatment and complications with

subarachnoid hemorrhage

subarachnoid hemorrhage, cerebral convexity

substantia nigra

suck, poor

sweating, abnormality of

symmetric brain lesions

systemic illness

Takotsubo cardiomyopathy

tandem gait, ataxic

target red cells

Tay-Sachs disease

temporal lobe, lesion

thalamus, lesion of-bilateral

tissue plasminogen activator, intravenous

tone, muscle, increased

tongue, enlarged

tongue, weakness

transketolase

treatment of neurologic disorder

trientine dihydrochloride

tripping

troponin T

tyrosine

tyrosine hydroxylase deficiency

tyrosinemia

ultrasonography

ultrasonography, head, fetus-neonate

umbilical-cord blood transplantation

unconsciousness

urea

urea-cycle enzymopathies

urine test for metabolic disorders

urine test in toxic screen

vertebral-basilar insufficiency

visual acuity, decreased

visual acuity, decreased, monocular

visual field defect

visual loss

visual loss, slow-unilateral

vital capacity

vitamin deficiency

vitamin K

vitamin supplementation

walking, difficulty with

weakness

weakness, generalized

weakness, progressive

weakness, proximal

weight loss

Wernicke's encephalopathy

Showing articles 50 to 100 of 3389 << Previous Next >>

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

Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002

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

Prevention of Ischaemic Stroke
BMJ 321:1455-1459, Gubitz,G. & Sandercock,P., 2000

Muscle Pain after Exercise
Lancet 353:1062, Nielen,C.&Mazzone,P., 1999

Clumsiness, Confusion, Coma, and Valproate
Lancet 353:1408, Ellaway,C.J.,et al, 1999

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
NEJM 338:1119-1126, Krivit,W.,et al, 1998

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

Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
Neurol 51:944-948, Rpt of the Quality Stnds Subcmte AAN, 1998

Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997

Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997

Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997

Clinicopath Conf
Noncaseating Granulomas Consistent with Sarcoidosis, Case 37-1996, NEJM 335:1668-1674996., , 1996

Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995

Clinicopath Conf
Intravascular Lymphomatosis, Case 31-1995, NEJM 333:992-999995., , 1995

Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994

Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994

Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
Neurol 44:461-466, Wilkinson,D.A.,et al, 1994

Brain Imaging in Late-Onset CM2 Gangliosidosis
Neurol 43:2055-2058, Streifler,J.Y.,et al, 1993

Epilepsy and Pregnancy
BMJ 307:492-495, O'Brien,M.D.&Gilmour-White,S., 1993

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Psychiatric Disturbances in Metachromatic Leukodystrophy
Arch Neurol 49:401-406, Hyde,T.M.,et al, 1992

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991

Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991

Sarcoidosis of the Nervous System, A Clinical Approach
Arch Int Med 151:1317-1321, Sharma,Om.P.&Sharma,A.D., 1991

Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991

Progressive Neuropathy & Recurrent Myoglobinuria in a Child with Long-chain 3-Hydroxyacylcoenzyme A Dehydrogenase Defic
J Pediatr 118:744-746, Dionisi,C.,et al, 1991

Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
NEJM 324:364-369, 4111991., Haller,R.G.&Lewis,S.F., 1991

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Adult Phosphorylase b Kinase Deficiency
Ann Neurol 28:529-538, Clemens,P.R.,et al, 1990

Clinicopath Conf
Sarcoidosis of CNS and Mediastinal Lymph Nodes, Case Record 6-1990, NEJM 322:388-397990., , 1990

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990

Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990

Lyme Disease
NEJM 321:586-596, Steere,A.C., 1989

Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
Neurol 39:741-742, Friedman,J.H.,et al, 1989

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

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

Inborn Errors of Metabolism in Children Referred with Reye's Syndrome, A Changing Pattern
JAMA 260:3167-3170, 3178-31801988., Rowe,P.C.,et al, 1988

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988

Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987

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

Showing articles 50 to 100 of 3389 << Previous Next >>