Publications by authors named "Eric T Rush"

33Publications

Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data.

Bone 2020 Aug 14;137:115413. Epub 2020 May 14.

Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Av. de Menéndez Pelayo, 65, 28009 Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Calle Arzobispo Morcillo, 4, 28029 Madrid, Spain; CIBERobn, Instituto de Salud Carlos III, C/ Sinesio Delgado, 4, 28029 Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2020.115413DOI Listing
August 2020

Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases.

J Clin Densitom 2020 Jan - Mar;23(1):1-20. Epub 2019 Sep 27.

Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.jocd.2019.09.006DOI Listing
September 2019

Childhood hypophosphatasia: to treat or not to treat.

Authors:
Eric T Rush

Orphanet J Rare Dis 2018 07 16;13(1):116. Epub 2018 Jul 16.

Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.

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http://dx.doi.org/10.1186/s13023-018-0866-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048713PMC
July 2018

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.

Mol Genet Metab 2017 09 25;122(1-2):4-17. Epub 2017 Jul 25.

Department of Pediatrics, Osaka University, Suita, Osaka 565-0871, Japan.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.010DOI Listing
September 2017

Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.

Am J Med Genet A 2017 Sep;173(9):2428-2434

Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska.

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http://dx.doi.org/10.1002/ajmg.a.38287DOI Listing
September 2017

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.

J Clin Endocrinol Metab 2017 09;102(9):3111-3123

Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California 90502.

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http://dx.doi.org/10.1210/jc.2017-01127DOI Listing
September 2017

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

J Clin Endocrinol Metab 2016 11 13;101(11):4283-4289. Epub 2016 Jul 13.

Department of Pediatric Genetics (S.N., D.Y.), Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin 682041, Kerala, India; Munroe-Meyer Institute for Genetics and Rehabilitation (E.T.R.), University of Nebraska Medical Center, Omaha, Nebraska 68198; Department of Kidney Diseases (C.B.L.), Lurie Children's Hospital of Chicago and Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611; and Endocrine Unit (E.F.-R., T.J.G., H.J.) and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.

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http://dx.doi.org/10.1210/jc.2016-2054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095231PMC
November 2016

Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.

J Pediatr Orthop 2018 Oct;38(9):484-489

Department of Orthopaedic Surgery and Rehabilitation, Nebraska Medical Center, University of Nebraska Medical Center.

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http://dx.doi.org/10.1097/BPO.0000000000000856DOI Listing
October 2018

Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity.

Heart 2017 03 19;103(6):443-448. Epub 2016 Sep 19.

Division of Pediatric Cardiology, Department of Pediatrics, University of Nebraska Medical Center and Children's Hospital and Medical Center, Omaha, Nebraska, USA.

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http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2016-310099
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http://dx.doi.org/10.1136/heartjnl-2016-310099DOI Listing
March 2017

Atypical presentation of mucopolysaccharidosis type IVA.

Authors:
Eric T Rush

Mol Genet Metab Rep 2016 Sep 7;8:8-12. Epub 2016 Jun 7.

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909711PMC
September 2016

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab Rep 2016 Jun 23;7:94-5. Epub 2016 May 23.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901166PMC
June 2016

Neurodevelopmental outcomes of tracheoesophageal fistulas.

J Pediatr Surg 2016 May 11;51(5):743-7. Epub 2016 Feb 11.

Division of Pediatric Surgery, Department of Surgery, University of Nebraska Medical Center, Omaha, NE 68198, USA; Children's Hospital and Medical Center, Omaha, NE 68114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2016.02.015DOI Listing
May 2016

Low bone mineral density is a common feature of Zellweger spectrum disorders.

Mol Genet Metab 2016 Jan 24;117(1):33-7. Epub 2015 Nov 24.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153007
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http://dx.doi.org/10.1016/j.ymgme.2015.11.009DOI Listing
January 2016

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

Cytogenet Genome Res 2015 17;147(1):31-4. Epub 2015 Nov 17.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebr., USA.

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http://dx.doi.org/10.1159/000441585DOI Listing
June 2016

Liver transplant for congenital factor VII deficiency.

Pediatr Blood Cancer 2014 Oct 28;61(10):1886-7. Epub 2014 Feb 28.

Pediatric Hematology/Oncology/BMT, Medical College of Wisconsin, Milwaukee, Wisconsin.

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http://dx.doi.org/10.1002/pbc.25008DOI Listing
October 2014

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.

J Pediatr Genet 2014 Mar;3(1):29-34

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA; Department of Orthopedic Surgery, University of Nebraska Medical Center, Omaha, NE, USA; Children's Hospital and Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.3233/PGE-14080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020983PMC
March 2014

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.

SAGE Open Med Case Rep 2014 31;2:2050313X14546348. Epub 2014 Jul 31.

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1177/2050313X14546348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857352PMC
August 2016

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.

Am J Med Genet A 2013 Jul 21;161A(7):1726-32. Epub 2013 May 21.

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.

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http://dx.doi.org/10.1002/ajmg.a.35951DOI Listing
July 2013

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Am J Med Genet A 2013 Feb 4;161A(2):320-6. Epub 2013 Jan 4.

Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska 68198, USA.

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http://dx.doi.org/10.1002/ajmg.a.35817DOI Listing
February 2013

Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings.

J Pediatr Endocrinol Metab 2012 ;25(5-6):493-7

University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, 68198-5440, USA.

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http://dx.doi.org/10.1515/jpem-2011-0498DOI Listing
September 2012

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

J Child Neurol 2012 Dec 28;27(12):1589-92. Epub 2012 Feb 28.

Siouxland Medical Education Foundation-University of Iowa, Sioux City, IA 51104, USA.

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http://dx.doi.org/10.1177/0883073811435918DOI Listing
December 2012

Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.

Semin Pediatr Neurol 2010 Mar;17(1):51-3

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091100001
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http://dx.doi.org/10.1016/j.spen.2010.02.008DOI Listing
March 2010