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Shwachman syndrome
Known as:
SDS
, schwachmann diamond syndrome
, Metaphyseal Chondrodysplasia, Shwachman Type
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A rare, inherited disorder in which the pancreas and bone marrow do not work the way they should. Symptoms include problems digesting food, a low…
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National Institutes of Health
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Related topics
Related topics
21 relations
Agranulocytosis
Anemia
Autosomal recessive inheritance
Bone Marrow
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Broader (3)
Bone Marrow Diseases
Exocrine pancreatic insufficiency
Lipomatosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Role of exercise and lung function in predicting work status in cystic fibrosis.
D. Frangolias
,
C. Holloway
,
S. Vedal
,
P. Wilcox
American Journal of Respiratory and Critical Care…
2003
Corpus ID: 41246402
With larger numbers of adult patients with cystic fibrosis (CF) in the workplace, the issue of disability has arisen increasingly…
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Highly Cited
2001
Highly Cited
2001
Bone status in cystic fibrosis
Manu R. Sood
,
G. Hambleton
,
M. Super
,
William D. Fraser
,
Judith E. Adams
,
M. Mughal
Archives of Disease in Childhood
2001
Corpus ID: 1633518
AIM To investigate bone mineral status of children with cystic fibrosis (CF). METHODS In 29 children with CF and 49 matched…
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Highly Cited
1999
Highly Cited
1999
Long-Term Treatment of Growth Hormone Insensitivity Syndrome with IGF-I
M. Ranke
,
M. Savage
,
P. Chatelain
,
M. Preece
,
R. Rosenfeld
,
P. Wilton
Hormone Research in Paediatrics
1999
Corpus ID: 8297163
A total of 33 patients (17 female, 16 male) with Laron syndrome (n = 31) or hGH-1 gene (n = 2, type IA deletion) from 22 centres…
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Highly Cited
1998
Highly Cited
1998
Biochemical, biophysical, and pharmacological characterization of bacterially expressed human agouti-related protein.
Robert D. Rosenfeld
,
Lisa Zeni
,
+12 authors
William Karbon
Biochemistry
1998
Corpus ID: 13501695
The agouti-related protein gene (Agrp) is a novel gene implicated in the control of feeding behavior. The hypothalamic expression…
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Highly Cited
1995
Highly Cited
1995
Clostridial neurotoxins compromise the stability of a low energy SNARE complex mediating NSF activation of synaptic vesicle fusion.
L. Pellegrini
,
V. O'Connor
,
F. Lottspeich
,
H. Betz
EMBO Journal
1995
Corpus ID: 39023671
A 20S complex composed of the cytosolic fusion proteins NSF and SNAP and the synaptosomal SNAP receptors (SNAREs) synaptobrevin…
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Highly Cited
1994
Highly Cited
1994
Electronic Kapitza conductance at a diamond-Pb interface.
Huberman Ml
,
Overhauser Aw
1994
Corpus ID: 204011515
Highly Cited
1993
Highly Cited
1993
The multicatalytic proteinase complex (proteasome): structure and conformational changes associated with changes in proteolytic activity.
Hakim Djaballah
,
A. Rowe
,
S. Harding
,
A. Rivett
Biochemical Journal
1993
Corpus ID: 11538807
The multicatalytic proteinase complex or proteasome is a high-molecular-mass multisubunit proteinase which is found in the…
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Highly Cited
1989
Highly Cited
1989
Treatment of symptomatic peripheral atherosclerotic disease with a rotational atherectomy device.
N. Zacca
,
A. Raizner
,
+4 authors
R. Roberts
American Journal of Cardiology
1989
Corpus ID: 20822420
Highly Cited
1988
Highly Cited
1988
High precision optical surface sensor.
T. Kohno
,
N. Ozawa
,
K. Miyamoto
,
T. Musha
Applied Optics
1988
Corpus ID: 765163
A noncontact optical surface sensor with <1-nm resolution has been developed. The principle of this high precision optical…
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Highly Cited
1986
Highly Cited
1986
Surface and bulk interactions of ionic and nonionic surfactants
N. Turro
,
P. Kuo
,
P. Somasundaran
,
K. Wong
1986
Corpus ID: 3754701
The fluorescence parameter 11/13 of pyrene was used to detect the interaction between anionic and nonionic surfactants (SDS and C…
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