Neudle.com: enzyme deficiency

Differential
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abdominal muscle paralysis

acetylcholine

acetylcholine in CNS

acid maltase deficiency

acid maltase deficiency, adult

acral sensory symptoms

activities of daily living scale

acyl CoA dehydrogenase deficiency

adenosine deaminase deficiency

adrenoleukodystrophy

adrenomyeloneuropathy

advances in neurology

adverse drug reaction

Africa

agalsidase alfa

alopecia

alpha galactosidase A deficiency

aminoacylase 1 deficiency

anemia, megaloblastic

aneurysm

angiokeratoma

angiotensin-converting enzyme

ankle edema

anorexia

anorexia nervosa

anterior horn cell disease

anticonvulsants

anticonvulsants, blood level determination of

anticonvulsants, untoward effects of

antiviral agents

apraxia

apraxia of eye movements

aromatic amino acid decarboxylase deficiency

arthralgia

arthropathy

arthropathy, neuropathic

arylsulfatase A

ascites

aspartate aminotransferase

autonomic dysfunction

B 12 deficiency

Babinski sign

basal ganglia, calcification of

basal ganglia, lesion of

basal ganglia, lesion, bilateral

behavioral disorder

biotin deficiency

biotinidase deficiency

blindness

blood dyscrasias, neurologic findings with

bone demineralization

bone loss

bone marrow transplantation

brainstem, infarction of

brainstem, lesion of

breast feeding

burning feet

burning feet, differential diagnosis of

burning hands

burning paresthesia

calcification, intracranial

calf hypertrophy

Canavan's disease

carbamyl phosphate synthetase-I deficiency

carbidopa

carbonic anhydrase II deficiency

cardiac surgery, neurologic complications with

cardiomegaly

cardiomyopathy

cardiopulmonary bypass

carnitine deficiency myopathy

CAT scan

CAT scan, abnormal

CAT scan, false negative

cataracts

caudate nucleus, lesion of

cerebellar atrophy, secondary

cerebellar degeneration

cerebellar hemorrhage

cerebellar infarction

cerebellar lesion

cerebellar vermis

cerebral cortical atrophy

cerebral infarction, hemorrhagic

cerebral ischemia

cerebral palsy

cerebrospinal fluid

cerebrospinal fluid, abnormal

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, enzymes in

cerebrospinal fluid, glycine

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, non atherosclerotic cause of

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

cerebrovascular disease

ceruloplasmin, serum

cherry red spot

cherry red spot-myoclonus syndrome

chest x-ray, abnormal

children

cholesterol

choline acetyltransferase

choline chloride

choreoathetosis

chorioretinitis

chromosomal abnormality

Clinical Pathologic Conference(C.P.C.)

codfish vertebrae

coenzyme Q10 deficiency

congenital infection, CNS

congenital infection, viral

congestive heart failure

cornea, opacification in infancy-causes of

cornea, opacity of

corneal dystrophy

cranial nerve enlargement

cranial nerve palsies

creatine phosphokinase(CPK)elevated

creatinine, elevated

cry, abnormal

crying

cultured skin fibroblasts

cystinuria

cytochrome c oxidase

cytochrome c oxidase, deficiency

cytomegalic inclusion disease

cytomegalovirus infection

cytomegalovirus infection, congenital

deep gray nuclei

deficiency of ADA2

degenerative diseases of CNS

delay in diagnosis

delusion

dementia

dementia, diagnostic evaluation of

dementia, differential diagnosis of

dementia, presenile

demyelinating disease

dentate nuclei

dentate nuclei, lesion of

depression

developmental disability

developmental milestones, loss of

developmental retardation

dexterity, impaired

diaphragmatic paralysis

diet

differential diagnosis

difficulty climbing stairs

dilantin

distal muscle atrophy

distal muscle weakness

dopa responsive dystonia

dopamine

drooling

dropped head syndrome

dystonic reaction, acute

echolalia

edema, pedal

efficacy

electrocardiogram, abnormal

electroencephalogram

electroencephalogram, abnormalities of

electromyogram

electron microscopy

emergencies, neurologic

emotional lability

encephalopathy

encephalopathy, neonatal

encephalopathy, progressive

enzyme, muscle disease

enzyme, serum

epidemiology of neurology

esophageal varices

exercise

exercise intolerance

eye movement, disorders of

Fabry's disease

facial anomalies

facial appearance, abnormal

facial expression abnormality

fatty acid, elevated plasma content

flow study, carotid artery

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

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

growth retardation

grunting

Hallervorden Spatz disease

Hallervorden Spatz disease, late onset

hallucination

hallucination, auditory

headache, progressive

headache, thunderclap

headbanging

hearing loss

heart murmur

hematopoietic tissue, extramedullary

hemianopia, homonymous

hemophilia

hepatic encephalopathy

hepatic failure

hepatolenticular degeneration(Wilson's disease)

hepatolenticular degeneration(Wilson's disease), presymptomatic

hepatomegaly

hepatosplenomegaly

heralding manifestation

herniated disc, thoracic

hexosaminidase-A

hexosaminidase-A and B

hip flexor weakness

histochemistry

histochemistry of muscle

homocystinuria

Hurler's syndrome

hydrocephalus

hydrocephalus, normal pressure

hydroxytryptophan L-5(L-5 HTP)

hyperammonemic encephalopathy

hypogammaglobulinemia

hypoparathyroidism, idiopathic

inborn errors of metabolism

inborn errors of metabolism, screening

inclusion bodies, intracytopasmic

intellectual deterioration

intelligence quotient

internal capsule

internuclear ophthalmoplegia

internuclear ophthalmoplegia, unilateral

intracranial pressure, increased

intrauterine

intrauterine infection

intrauterine infection, viral

iron, brain

irritability

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

Leber's hereditary optic neuropathy

leg weakness, bilateral

Leigh's disease

Leigh's disease, adult variety

leukocyte enzyme abnormality

leukodystrophy

leukopenia

life expectancy

lipid storage disorder of CNS

livedo reticularis

liver disease

liver function enzymes

long bone lesion

low back pain

lysosomal storage disease

melanomatosis, primary malignant

MELAS syndrome

memory, defect of recent

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

methylmalonic acid, serum

methylmalonic acidemia

microcephaly

microspherophakia

migraine, seizures in

misdiagnosis

mitochondrial disease

mitochondrial encephalomyopathy

MNGIE syndrome

molecular genetics

monoamine oxidase inhibitors

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, CAT scan compared to

MRI, demyelinating disease

MRI, diffusion weighted

MRI, disappearing lesion on

MRI, eye of tiger sign

MRI, hypointense signal foci on

MRI, muscle

MRI, paramagnetic effect

MRI, vessel wall

MRI, vessel wall enhancement

MRS

mucopolysaccharidoses

multiple sclerosis, differential diagnosis of

multiple system atrophy

muscle atrophy, progressive

muscle phosphofructokinase deficiency

muscle phosphorylase deficiency

muscle spasm

muscle stiffness

muscle strength, testing

muscle wasting, diffuse

muscle weakness

muscle weakness, insidious onset of

muscle weakness, proximal

muscular dystrophy, Duchenne

muscular dystrophy, Duchenne, neonatal screening

myopathy, distal, vacuolar

myopathy, genetic

myopathy, metabolic

myopathy, mitochondrial

myopathy, necrotizing

neonatal infection, viral

neonatal screening, genetic neurologic disorders

nerve biopsy

nerve conduction studies

neuraminidase deficiency

neuroendocrinology

neurologic complications of, surgery

neurologic disease

neurologic disease, diagnoses of

neurologic evaluation

neurologic examination

neurologic signs

neuropathology

neuropathy

neuropathy, ataxia, retinitis pigmentosa

neuropathy, iatrogenic

neuropathy, painful

neuropathy, peripheral

neuropathy, sensory

neurotransmitter

night sweats

nutritional deficiency

nystagmus

oculogyric crisis

ophthalmoplegia

ophthalmoplegia, progressive external

opisthotonus

optic atrophy

optic chiasm, enlarged

optic nerve

optic nerve, enlarged

ornithine transcarbamylase deficiency

paraspinal muscle weakness

paresthesias

paresthesias, hands

Parkinsonism multiple-system atrophy

Parkinsonism syndrome

PAS positive

PAS positive material in the brain

peripheral blood smear, abnormal

phosphorylase b kinase deficiency

pigmentary retinopathy

pleocytosis of cerebrospinal fluid

polymerase chain reaction

polyneuropathy

Pompe's disease of glycogen storage

precipitating factors

preclinical

pregnancy, anticonvulsants during

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

prevention of neurologic disorders

prognathism

prognosis

progressive neurologic disorder

psychiatric problems in neurologic disorders

psychological testing

psychological testing, children

psychomotor retardation

psychosis

psychotic behavior

pulmonary function tests

pulmonary hypertension

putamen, lesion of

pyramidal tract

pyridoxine

pyridoxine deficiency

pyruvate dehydrogenase deficiency

pyruvate metabolism, abnormality of

pyruvate-kinase deficiency anemia

renal tubular acidosis

respiratory failure

respiratory tract infection

retinal degeneration

retinopathy

reversible cerebral vasoconstrictive syndromes

reversible neurologic disorder

scoliosis, neurologic association with

screaming

screening

second wind phenomena

seizure, psychomotor-temporal lobe

self-mutilation

semialdehyde dehydrogenase deficiency

sensorineural hearing loss

serum alanine aminotransferase

short stature

skin, biopsy

skin, lesions in neurologic disorders

slit lamp examination

small for dates infant, problems in

small vessel disease

sodium valproate

sodium valproate, toxicity

somnolence

spasticity

speech disorder

speech disorder, childhood

speech, pressured

sphingolipodoses

spinal cord

spinal cord, compression of

spinal cord, lesion of

spinocerebellar ataxia type 1

spinocerebellar degeneration

splenomegaly

spongy degeneration of brain

startle reaction

stem cell transplantation

subarachnoid hemorrhage

subarachnoid hemorrhage, cerebral convexity

substantia nigra

suck, poor

symmetric brain lesions

systemic illness

tangential

Tay-Sachs disease

temporal lobe, lesion

term infant

tetrahydrobiopterin

thalamus, lesion of

thalamus, lesion of-bilateral

thiamine

thrombocytopenia

thyroid function tests

tinnitus

tone, muscle, increased

treatment of neurologic disorder

tremor

trientine dihydrochloride

type 2 muscle fiber

tyrosine

tyrosine hydroxylase deficiency

tyrosinemia

ultrasonography, head

umbilical-cord blood transplantation

urea

urea-cycle enzymopathies

uremia

urinary incontinence

urine test for metabolic disorders

vertebral-basilar insufficiency

walking, difficulty with

weakness

weakness, progressive

weakness, proximal

weight loss

Wernicke's encephalopathy

Showing articles 100 to 150 of 1607 << Previous Next >>

Multiple Molecular Forms of Arylsulfatase in Different Forms of Metachromatic Leukodystrophy (MLD)
Neurol 29:16-20, Farrell,D.F.,et al, 1979

Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
Neurol 29:510-513, Rutgers,M.J.,et al, 1979

Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979

Neurological Manifestations of Fabry Disease in Female Carriers
Ann Neurol 4:537-540, Bird,T.D.,et al, 1978

Fatal Infantile Form of Muscle Phosphorylase Deficiency
Neurol 28:1124-1129, DiMauro,S.,et al, 1978

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

The Cherry-red Spot-Myoclonus Syndrome
Ann Neurol 3:234, Rapin,I.,et al, 1978

Adult-onset GM2 Gangliosidosis
Neurol 28:1117-1123, O'Neill,B.,et al, 1978

Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978

Possible Biochemical Basis of Memory Disorder in Alzheimer Disease
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Plasma Anticonvulsant Concentrations During Pregnancy
Neurol 27:128, Lander,C.M.,et al, 1977

Chronic Hexosaminidase A & B Deficiency
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Neuropathology of Sanfilippo Syndrome
Ann Neurol 2:161, Ghatak,N.R.,et al, 1977

Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
NEJM 296:210, VanWoert,M.H.,et al, 1977

The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
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Abnormality of a Thiamine-Requiring Enzyme in Patients with Wernicke-Korsakoff Syndrome
NEJM 297:1367, Blass,J.P.,et al, 1977

Possible Pathophysiology of Neurologic Abnormalities assoc. with Nonketotic hyperglycinemia
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Specificity of the Urine Inhibitor Test for Leigh's Disease
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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Subacute Necrotizing Encephalopathy in Late Adolescence
Arch Neurol 18:478, Hardman,J.M.,et al, 1968

Peripheral Neuropathy, A Review
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Progress Toward Mitigating Disability Progression in Multiple Sclerosis
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Cancer-Related Cognitive Impairment in Patients with Lung Cancer
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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Acute and Progressive Cognitive Decline in a 38-Year-Old Man
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025

Clinicopathologic Conference, Lyme Carditis
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A 32-Year-Old Woman Presenting with Thunderclap Headache in the Third Trimester
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Association Between Consumption of Low- and No-Calorie Artificial Sweeteners and Cognitive Decline
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A 59-Year-Old Man with Acute-Onset Encephalopathy and Aphasia
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Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
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Clinicopathologic Conference, Metastatic Small-Cell Carcinoma of the Lung
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Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System:A Multicentric Cohort Study
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Inebilizumab for Treatment of IgG4-Related Disease
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Beyond Glucocorticoids for IgG4-Related Disease
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
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