Institution · Synageva BioPharma (United States)

Most cited papers from Synageva BioPharma (United States)

Synageva BioPharma (United States)

What are the most cited papers from Synageva BioPharma (United States)?

The most cited paper from Synageva BioPharma (United States) is "Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction" (Željko Reiner, Ornella Guardamagna, Devaki R. Nair et al., 2014), with 314 citations. Next come "A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency" (248) and "Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants" (121).

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Showing 49 of 49 papers. Every paper is listed.

Most cited papers, sortable by citations and release date
#	Paper
1	Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction Željko Reiner, Ornella Guardamagna, Devaki R. Nair et al. · Atherosclerosis Open access	15 Apr 2014	314
2	A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency Barbara K. Burton et al. · New England Journal of Medicine Open access	10 Sep 2015	248
3	Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Simon Allan Jones et al. · Genetics in Medicine Open access	27 Aug 2015	121
4	Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease Manisha Balwani, Catherine Mary Breen, Gregory M. Enns et al. · Hepatology Open access	24 Jan 2013	119
5	Clinical Features of Lysosomal Acid Lipase Deficiency Barbara K. Burton, Patrick B. Deegan, Gregory M. Enns et al. · Journal of Pediatric Gastroenterology and Nutrition Open access	7 Aug 2015	116
6	Sebelipase alfa over 52weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency Vassili Valayannopoulos et al. · Journal of Hepatology Open access	2 Jul 2014	98
7	Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study Simon Allan Jones, Sandra Rojas-Caro, Anthony Quinn et al. · Orphanet Journal of Rare Diseases Open access	8 Feb 2017	89
8	Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice Yongping Xu, Kui Xu, Ying Sun et al. · Human Molecular Genetics Open access	5 Mar 2014	89
9	Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints Emil Kakkis, Mary O’Donovan, Gerald F. Cox et al. · Orphanet Journal of Rare Diseases Open access	2015	59
10	Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology Ying Sun, Jane Florer, Christopher N. Mayhew et al. · PLoS ONE Open access	30 Mar 2015	52
11	Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: Non-invasive identification and treatment monitoring by magnetic resonance Peter E. Thelwall, Fiona E. Smith, Mark C. Leavitt et al. · Journal of Hepatology Open access	26 Apr 2013	45
12	Identification and metabolic profiling of patients with lysosomal acid lipase deficiency Clive R. Pullinger, Eveline Oestreicher Stock, Irina Movsesyan et al. · Journal of clinical lipidology	26 Jul 2015	36
13	Reversal of advanced disease in lysosomal acid lipase deficient mice: A model for lysosomal acid lipase deficiency disease Ying Sun, Yongping Xu, Hong Du et al. · Molecular Genetics and Metabolism	4 May 2014	31
14	Spiral Ganglion Degeneration and Hearing Loss as a Consequence of Satellite Cell Death in Saposin B-Deficient Mice Omar Akil, Ying Sun, Sarath Vijayakumar et al. · Journal of Neuroscience Open access	18 Feb 2015	31
15	Sustained elevations in LDL cholesterol and serum transaminases from early childhood are common in lysosomal acid lipase deficiency Anthony Quinn, Barbara K. Burton, Patrick B. Deegan et al. · Molecular Genetics and Metabolism	27 Jan 2014	14
16	New Diagnostic Method for Lysosomal Acid Lipase Deficiency and the Need to Recognize Its Manifestation in Infants (Wolman Disease) Mariana Gómez‐Nájera, Hilario Barajas‐Medina, Mayra Celina Gallegos‐Rivas et al. · Journal of Pediatric Gastroenterology and Nutrition	17 Sep 2013	14
17	Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency Simon Allan Jones et al. · Molecular Genetics and Metabolism	27 Jan 2014	12
18	900 RECOMBINANT LYSOSOMAL ACID LIPASE NORMALIZES LIVER WEIGHT, TRANSAMINASES AND HISTOPATHOLOGICAL ABNORMALITIES IN AN MODEL OF CHOLESTERYL ESTER STORAGE DISEASE Matthew L. Leavitt, Alastair D. Burt, Weibing Hu et al. · Journal of Hepatology	Mar 2011	12
19	SBC-102, a recombinant enzyme replacement therapy corrects clinically relevant phenotypic abnormalities in a rat model of lysosomal acid lipase deficiency Anthony Quinn, Mark C. Leavitt, Wei Hu et al. · Molecular Genetics and Metabolism	18 Jan 2011	9
20	Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency Simon Allan Jones, Dominique Plantaz, Roshni Vara et al. · Molecular Genetics and Metabolism	28 Jan 2015	8
21	Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014 John A. Barranger, Roscoe O. Brady, Gregory Alex Grabowski et al. · American Journal of Hematology	Feb 2014	8
22	A glycosylated recombinant human granulocyte colony stimulating factor produced in a novel protein production system (AVI-014) in healthy subjects: a first-in human, single dose, controlled study Roslyn Varki, E Péquignot, Mark C. Leavitt et al. · BMC Clinical Pharmacology Open access	28 Jan 2009	7
23	Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency Gregory M. Enns, Manisha Balwani, Patrick B. Deegan et al. · Molecular Genetics and Metabolism	20 Jan 2012	7
24	Use of composite endpoints in clinical trials Abdul J. Sankoh, Haihong Li, Ralph B. D’Agostino · Statistics in Medicine	14 Dec 2015	5
25	Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease) Vassili Valayannopoulos, Dominique Plantaz, Roshni Vara et al. · Molecular Genetics and Metabolism	27 Jan 2014	5
26	JCL Roundtable: Enzyme replacement therapy for lipid storage disorders William Virgil Brown, Robert J. Desnick, Gregory Alex Grabowski · Journal of clinical lipidology Open access	15 Jul 2014	5
27	Intravenous SBC-103, a recombinant human alpha-N-acetylglucosaminidase reduces CNS heparan sulfate content in a mucopolysaccharidosis type IIIB mouse model Joseph V. Rutkowski, Kari Harbert, Hao Xu et al. · Molecular Genetics and Metabolism	27 Jan 2014	4
28	SBC-103, a recombinant human alpha-N-acetylglucosaminidase, demonstrates mannose-6-phosphate receptor dependent transport in an in vitro blood-brain barrier model Anthony J. Rossomando, Ling Ling Chen, Carlo Ciatto et al. · Molecular Genetics and Metabolism	27 Jan 2014	4
29	Monoclonal antibody: the corner stone of modern biotherapeutics. Zhinan Xia, Xue-ting Cai, Peng Cao · PubMed	Oct 2012	4
30	Co-localization of macrophage aggregation and fibrosis in a rat model of lysosomal acid lipase (LAL) deficiency and the effects of enzyme replacement with SBC-102 Joseph V. Rutkowski, Alastair D. Burt, Mark C. Leavitt et al. · Molecular Genetics and Metabolism	26 Jan 2013	3
31	Long-term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency Chester Buchan Whitley, Vassili Valayannopoulos, Věra Malinová et al. · Molecular Genetics and Metabolism	27 Jan 2014	2
32	Effect of sebelipase alfa after 90 weeks in adults with lysosomal acid lipase deficiency Vassili Valayannopoulos, Věra Malinová, Reena Kumari Sharma et al. · Atherosclerosis	10 Jul 2014	2
33	Target Deconvolution Efforts on Wnt Pathway Screen Reveal Dual Modulation of Oxidative Phosphorylation and SERCA2 Matias Casás‐Selves, Andrew X. Zhang, James J. Dowling et al. · ChemMedChem Open access	29 Mar 2017	1
34	Effect of sebelipase alfa after 2years in adults with lysosomal acid lipase deficiency Sandra Rojas-Caro, Chester Buchan Whitley, Vassili Valayannopoulos et al. · Molecular Genetics and Metabolism	28 Jan 2015	1
35	Biochemical evidence of the effects of SBC-103, a recombinant human alpha-N-acetylglucosaminidase in a mucopolysaccharidosis IIIB mouse model using an improved analytical method for substrate quantification Mark C. Leavitt, Joseph V. Rutkowski, Hao Xu et al. · Molecular Genetics and Metabolism	26 Jan 2013	1
36	Evaluation of blood–brain barrier integrity and structural abnormalities in MPS IIIB patients using cerebrospinal fluid/serum albumin index (CSF-AI) and multimodal MRI Suresh Vijay, Geoff J.M. Parker, Caleb Roberts et al. · Molecular Genetics and Metabolism	27 Jan 2015	1
37	Disrupting the vicious cycle of malnutrition and enteropathy: advancing strategies to improve child physical and neurocognitive outcomes M. Khalid Ijaz, Raymond W. Nims, Joseph R. Rubino et al. · Frontiers in Public Health Open access	Sep 2026	0
38	Dynamics of respiratory virus spread indoors suggest a holistic approach for exposure risk mitigation M. Khalid Ijaz, Syed A. Sattar, Stephanie A. Boone et al. · Antimicrobial Stewardship & Healthcare Epidemiology Open access	2025	0
39	Efficacy and safety of sebelipase alfa in children and adults with Lysosomal Acid Lipase Deficiency: results of a phase 3 trial Sandra Rojas-Caro, Manisha Balwani, M. Bialer et al. · Atherosclerosis	10 Jun 2015	0
40	Cover Picture: Target Deconvolution Efforts on Wnt Pathway Screen Reveal Dual Modulation of Oxidative Phosphorylation and SERCA2 (ChemMedChem 12/2017) Matias Casás‐Selves, Andrew X. Zhang, James J. Dowling et al. · ChemMedChem	21 Jun 2017	0
41	SBC-103, a Recombinant Enzyme Replacement Therapy, Demonstrates Potential for the Treatment Of Sanfilippo Syndrome Type B Mark C. Leavitt, Wei Hu, Robert Lyng et al. · Molecular Genetics and Metabolism	20 Jan 2012	0
42	Identification, lipoprotein profiling and treatment of patients with lysosomal acid lipase deficiency Clive R. Pullinger, Eveline Oestreicher Stock, Radhika Tripuraneni et al. · Atherosclerosis	10 Jul 2014	0
43	Dyslipidemia and sustained elevations in transaminases from early childhood are common in lysosomal acid lipase deficiency Patrick B. Deegan, Barbara K. Burton, M. Di Rocco et al. · Atherosclerosis	10 Jul 2014	0
44	Novel mutations seen in rapid, fatal case of early onset LAL deficiency (Wolman disease) Mariana Gómez-Nájera, Hilario Barajas-Medina, Mayra Celina Gallegos‐Rivas et al. · Molecular Genetics and Metabolism	26 Jan 2013	0
45	Long term safety and clinical activity of SBC-102, a recombinant human lysosomal acid lipase (rhLAL), in patients with late onset LAL deficiency Manisha Balwani, Vĕra Malinová, Reena Kumari Sharma et al. · Molecular Genetics and Metabolism	26 Jan 2013	0
46	“You can't always get what you want”: Filipin staining unmasking lysosomal acid lipase (LAL) deficiency in a young child Charles Marques Lourenço, Fernanda Timm, Maira Burin et al. · Molecular Genetics and Metabolism	26 Jan 2013	0
47	Evaluation of United States schools and colleges of pharmacy curriculum to assess education on lysosomal diseases Alexandra Malinowski, Jeanine R. Jarnes Utz, Joseph Schneider et al. · Molecular Genetics and Metabolism	28 Jan 2015	0
48	899 SHORTENED HEPATOCYTE TELOMERES AND INCREASED HEPATOCYTE NUCLEAR AREA IN PATIENTS WITH α-1 ANTITRYPSIN DEFICIENCY USING QUANTITATIVE FLUORESCENT IN SITU HYBRIDIZATION (Q.-FISH) Maria Graziella Mela, D. T. Samuel Aravinthan, Phaedra Tachtatzis et al. · Journal of Hepatology Open access	Mar 2011	0
49	An unremarkable clinical presentation of lysosomal acid lipase deficiency (LALD) in a 5 year old with advanced liver pathology Richard W. Erbe, Katherine B. Sims, Kendrick A. Goss et al. · Molecular Genetics and Metabolism	27 Jan 2014	0

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.