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1 . Academic Journal
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study
저자
by
Elias, Ellen R.
;
Orth, Lucas E.
;
Li, Amy
;
Xu, Libin
;
Jones, Sara M.
, et al.
소스
In
Molecular Genetics and Metabolism Reports
March 2024 38
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7 . Academic Journal
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran
저자
by
Kariminejad, Ariana
;
Barzgar, Mohammadreza
;
Bozorgmehr, Bita
;
Keshavarz, Elham
;
Kariminejad, Mohamad Hasan
, et al.
소스
In
European Journal of Medical Genetics
March 2018 61(3):139-144
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7 . Academic Journal
Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
저자
by
Groza, Cristian
;
Schwendinger-Schreck, Carl
;
Cheung, Warren A.
;
Farrow, Emily G.
;
Thiffault, Isabelle
, et al.
소스
Nature Communications; 1/22/2024, Vol. 15 Issue 1, p1-12, 12p
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7 . Academic Journal
Mitochondrial Fatty-Acid Oxidation Disorders
저자
by
Kompare, Michelle
;
Rizzo, William B.
.
소스
In
Seminars in Pediatric Neurology
2008 15(3):140-149
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4 . Academic Journal
Untargeted Metabolomic Analysis of Sjögren–Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.
저자
by
Dai, Hongying Daisy
;
Qiu, Fang
;
Jackson, Kimberly
;
Fruttiger, Marcus
;
Rizzo, William B.
.
소스
Metabolites (2218-1989); Jun2023, Vol. 13 Issue 6, p682, 17p
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7 . Academic Journal
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
저자
by
Cheung, Warren A.
;
Johnson, Adam F.
;
Rowell, William J.
;
Farrow, Emily
;
Hall, Richard
, et al.
소스
Nature Communications; 5/29/2023, Vol. 14 Issue 1, p1-13, 13p
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7 . Academic Journal
Nonalcoholic steatohepatitis: Association of insulin resistance and mitochondrial abnormalities
저자
by
Sanyal, Arun J.
;
Campbell-Sargent, Carol
;
Mirshahi, Faridoddin
;
Rizzo, William B.
;
Contos, Melissa J.
, et al.
소스
In
Gastroenterology
April 2001 120(5):1183-1192
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7 . Academic Journal
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
저자
by
Baker, Craig V.
;
Cady Keller, Alyssa
;
Lutz, Richard
;
Eveans, Karen
;
Baumert, Krystal
, et al.
소스
International Journal of Neonatal Screening (IJNS); Jun2022, Vol. 8 Issue 2, p29, 9p
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7 . Academic Journal
Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren–Larsson syndrome
저자
by
Rizzo, William B.
;
Heinz, Eric
;
Simon, Marcia
;
Craft, Debra A.
.
소스
In
BBA - Molecular Basis of Disease
2000 1535(1):1-9
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6 . Academic Journal
Changes in phsophatidylcholine fatty acid composition are associated with altered skeletal muscle insulin responsiveness in normal man
저자
by
Clore, John N.
;
Harris, Paul A.
;
Li, Jing
;
Azzam, Amin
;
Gill, Ranjodh
, et al.
소스
In
Metabolism
2000 49(2):232-238
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