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Zellweger Syndrome
Known as:
PBD1A
, Zellweger's Syndrome
, Cerebro-Hepato-Renal Syndrome
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An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the…
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National Institutes of Health
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Related topics
Related topics
48 relations
Acquired cubitus valgus
Aminoaciduria
Autosomal recessive inheritance
Breech Presentation
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Broader (7)
Congenital anomaly of brain
Congenital disease of brain
Hereditary Diseases
Liver diseases
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Narrower (1)
Pseudo-Zellweger syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1993
1993
Low-temperature microwave surface impedance of the conventional organic superconductor kappa -(BEDT-TTF)2Cu(NCS)2.
Dressel
,
Bruder
,
Grüner
,
Carlson
,
Wang
,
Williams
Physical Review B (Condensed Matter)
1993
Corpus ID: 31827122
We have performed measurements of the microwave surface impedance [ital Z][sub [ital S]]=[ital R][sub [ital S]]+[ital iX][sub…
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1990
1990
Strength-based and fracture-based approaches in the analysis of fibre debonding
C. Leung
,
V. Li
1990
Corpus ID: 21767857
The debonding behavior of fibers strongly affects the properties of fiber-reinforced composites. In the literature, two different…
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1986
1986
The significance of hyperpipecolatemia in Zellweger syndrome.
J. Dancis
,
J. Hutzler
American Journal of Human Genetics
1986
Corpus ID: 45960343
The plasma pipecolic acid concentration in two newborn infants with Zellweger syndrome at ages 4 and 10 days were 7.8 and 7.7…
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1985
1985
Alterations of the intracellular water and ion concentrations in brain and liver cells during aging as revealed by energy dispersive X-ray microanalysis of bulk specimens.
G. Lustyik
,
I. Nagy
Scanning electron microscopy
1985
Corpus ID: 27929307
Age dependence of the intracellular concentrations of monovalent ions (Na+, K+ and Cl-) was examined in 1, 11 and 25-month-old…
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1985
1985
A milder variant of Zellweger syndrome
P. G. Barth
,
R. Schutgens
,
+4 authors
J. van der Klei-van Moorsel
European Journal of Pediatrics
1985
Corpus ID: 32960438
A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental…
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1984
1984
Inhibition of acanthamoeba actomyosin-II ATPase activity and mechanochemical function by specific monoclonal antibodies
D. Kiehart
,
T. Pollard
Journal of Cell Biology
1984
Corpus ID: 86567853
Monoclonal and polyclonal antibodies that bind to myosin-II were tested for their ability to inhibit myosin ATPase activity…
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1976
1976
Assessing Dimensions of Quality in Doctoral Education: A Technical Report of a National Study in Three Fields.
M. Clark
1976
Corpus ID: 157216106
Pftis t'ia:zih, Itv r--roort :-:11cts the iLcr sing demand for program accou:y tbillty it 'AI gra,iudt r:, ley -1rh…
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1976
1976
Cerebro-hepato-renal syndrome of Zellweger. Ocular histopathologic findings.
R. Haddad
,
R. L. Font
,
D. Friendly
A M A Archives of Ophthalmology
1976
Corpus ID: 13439440
An infant who was the product of a full-term pregnancy was born with multiple congenital defects, including diffuse bilateral…
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1974
1974
The cerebro-hepato-renal syndrome (Zellweger's syndrome).
A. Sommer
,
E. Bradel
,
A. Hamoudi
Biology of the Neonate
1974
Corpus ID: 46832524
Four infants with the clinical and pathological findings of the cerebro-hepato-renal syndrome of Zellweger are reported. They…
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1972
1972
Roentgenographic features of the cerebrohepatorenal syndrome of Zellweger.
J. Williams
,
L. Secrist
,
G. W. Fowler
,
J. Gwinn
,
K. W. Dumars
The American journal of roentgenology, radium…
1972
Corpus ID: 46124497
Two cases of cerebrohepatorenal syndrome of Zellweger are reported with clinical, laboratory and roentgenographic findings.The…
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