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Infantile Refsum Disease (disorder)

Known as: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL, PBD1B, Infantile Refsum's Disease 
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain… 
National Institutes of Health

Related topics

Related topics

8 relations
Hyperpipecolic AcidemiaIn BloodMicrobiologicalNervous system structure

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Pharmacologic Therapies for Infantile Hemangioma: Is There a Rational Basis?
Background: Infantile hemangioma is the most common tumor of infancy. The majority of cases are managed conservatively, but… 
Highly Cited
1989
Highly Cited
1989
Pityrosporum ovale in Infantile Seborrheic Dermatitis
Abstract: The presence of Pityrosporum ovale was investigated in four groups of infants age 1 to 24 months, 15 with infantile… 
1979
1979
The visual results following infantile glaucoma surgery.
The visual function of 26 patients with a diagnosis of primary infantile glaucoma was studied. Quantitative visual acuities were… 
Highly Cited
1977
Highly Cited
1977
Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management.
Persistent hypoglycemia in the neonate and young infant usually results from inappropriate, excessive secretion of insulin, or a… 
Review
1976
Review
1976
Effects of infantile undernutrition on adult learning in rats: methodological and design problems.
1974
1974
Temporal lobe epilepsy and perinatal occlusion of the posterior cerebral artery
In most of eight patients with temporal lobe seizures, the only clearcut neurologic sign was a homonymous hemianopsia or… 
Highly Cited
1971
Highly Cited
1971
THE INCIDENCE AND GENETICS OF METACHROMATIC LEUCODYSTROPHY IN NORTHERN SWEDEN
The purpose of this study was to investigate the incidence and genetics of metachromatic leuco‐dystrophy (MLD). A series of 13… 
1968
1968
Reading Diagnosis and Remediation.
New updated! The latest book from a very famous author finally comes out. Book of reading diagnosis and remediation, as an… 
Highly Cited
1957
Highly Cited
1957
INFANTILE SUBACUTE NECROTIZING EXCEPHALOPATHY WITH PREDILECTION FOR THE BRAIN STEM
Much progress has been made during the past quarter century in the clarifi­ cation of the diseases encountered in the brains of… 
1947
1947
Studies of the effects of infantile experience on adult behavior in rats; effects of infantile feeding frustration on adult hoarding.
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