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/vufind/Search/Results?lookfor=%22Smith-Lemli-Opitz%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22Smith-Lemli-Opitz%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (179)
1
Smith-Lemli-Opitz Syndrome and Cholic Acid : Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation
enthalten in:
ClinicalTrials.gov
| 2024
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2
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls : Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
enthalten in:
ClinicalTrials.gov
| 2024
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3
Study of Smith-Lemli-Opitz Syndrome : Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome
enthalten in:
ClinicalTrials.gov
| 2024
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4
Baby Detect : Genomic Newborn Screening : Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
enthalten in:
ClinicalTrials.gov
| 2024
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5
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism : Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
enthalten in:
ClinicalTrials.gov
| 2024
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6
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls : Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
enthalten in:
ClinicalTrials.gov
| 2024
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7
Study of Smith-Lemli-Opitz Syndrome : Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome
enthalten in:
ClinicalTrials.gov
| 2024
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8
Early Check: Expanded Screening in Newborns : Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
enthalten in:
ClinicalTrials.gov
| 2024
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9
Traumatic Self-Inflicted Ventricular Laceration : A Case of Smith-Lemli-Opitz Syndrome in an Adult
enthalten in:
Cureus
| 2024
von
Beuschel, J.
|
Ng, G.
|
Abaraoha, J.
| +1
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10
MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome
enthalten in:
bioRxiv : the preprint server for biology
| 2023
von
Li, A.
|
Xu, L.
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ClinicalTrials.gov
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American journal of medical genetics. Part A
6
Journal of Lipid Research
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Analytical and bioanalytical chemistry
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European journal of pediatrics
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Documenta ophthalmologica
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Congenital heart disease
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Smith-Lemli-Opitz syndrome
54
Cholesterol
35
Smith–Lemli–Opitz syndrome
31
7-dehydrocholesterol
25
97C5T2UQ7J
24
Research Support, Non-U.S. Gov't
22
EC 1.3.-
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Oxidoreductases Acting on CH-CH Group Donors
20
7-Dehydrocholesterol
20
7-dehydrocholesterol reductase
20
Case Reports
19
Dehydrocholesterols
18
BK1IU07GKF
18
EC 1.3.1.21
18
Smith-Lemli-Opitz Syndrome
17
Research Support, N.I.H., Extramural
16
610
15
cholesterol
14
Smith-Lemli-Opitz
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