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Autosomal Recessive Disorder
An inherited disorder manifested only when two copies of a mutated gene are present.
National Institutes of Health
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Highly Cited
2007
Highly Cited
2007
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
G. Ali
,
M. Chishti
,
S. I. Raza
,
P. John
,
W. Ahmad
Human Genetics
2007
Corpus ID: 9640640
Hereditary hypotrichosis is a rare autosomal recessive disorder characterized by sparse hair on scalp and rest of the body of…
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Review
2007
Review
2007
Phytosterols and vascular disease
S. John
,
A. Sorokin
,
P. Thompson
Atherosclerosis
2007
Corpus ID: 29213889
Purpose of review Phytosterols and stanols are plant derivatives that compete with cholesterol for intestinal absorption and…
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Review
2004
Review
2004
Before the loss: neuronal dysfunction in Niemann-Pick Type C disease.
C. A. Paul
,
A. K. Boegle
,
R. Maue
Biochimica et Biophysica Acta
2004
Corpus ID: 30712686
Highly Cited
1999
Highly Cited
1999
Cholesterol Biosynthesis from Lanosterol
S. Bae
,
J. Lee
,
B. Fitzky
,
Jekyung Seong
,
Y. Paik
Journal of Biological Chemistry
1999
Corpus ID: 23985034
The cDNA encoding the 471-amino acid rat 7-dehydrocholesterol reductase (DHCR), an enzyme that has been implicated in both…
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1997
1997
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.
A. Chudley
,
Carol H. McCullough
,
D. W. Mccullough
American journal of medical genetics
1997
Corpus ID: 40855835
We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of…
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Review
1992
Review
1992
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
M. Stefanini
,
S. Giliani
,
+4 authors
G. Trevisan
Mutation research
1992
Corpus ID: 21076357
Highly Cited
1990
Highly Cited
1990
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
Christopher Cunniff
,
K. L. Jones
,
Howard M. Saal
,
Harvey J. Stern
Pediatrics
1990
Corpus ID: 8945636
Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal…
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1984
1984
Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder
H. Sulh
,
B. Steinmann
,
+4 authors
V. M. Kaloustian
Clinical Genetics
1984
Corpus ID: 9436914
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers‐Danlos syndrome type IV…
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1980
1980
Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder.
M. R. Sedaghatian
,
John M. Opitz
American journal of medical genetics
1980
Corpus ID: 33476168
This is a report of two brothers, born within a year of each other, with a similar skeletal disorder of severe congenital…
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Highly Cited
1978
Highly Cited
1978
Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia
G. Thomas
,
R. Tipton
,
L. Ch'ien
,
L. Reynolds
,
C. Miller
Clinical Genetics
1978
Corpus ID: 24045447
A 31‐year‐old male is described who has macular cherry‐red spots, increased deep tendon reflexes and myoclonus without dementia…
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