Publications by authors named "Sandesh C S Nagamani"

45Publications

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

Mol Genet Metab 2020 Dec 7;131(4):390-397. Epub 2020 Nov 7.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany; Heidelberg Research Center for Molecular Medicine (HRCMM), Heidelberg, Germany. Electronic address:

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December 2020

A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta.

JB JS Open Access 2020 Jul-Sep;5(3). Epub 2020 Sep 11.

Motion Analysis Laboratory, Shriners Hospitals for Children, Chicago, Illinois.

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September 2020

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Sci Rep 2020 07 20;10(1):11948. Epub 2020 Jul 20.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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July 2020

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Hum Mutat 2020 05 30;41(5):946-960. Epub 2020 Jan 30.

Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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May 2020

Early prediction of phenotypic severity in Citrullinemia Type 1.

Ann Clin Transl Neurol 2019 09 30;6(9):1858-1871. Epub 2019 Aug 30.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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September 2019

Alterations in non-type I collagen biomarkers in osteogenesis imperfecta.

Bone 2019 03 2;120:70-74. Epub 2018 Oct 2.

Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, OR, United States of America.

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March 2019

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.

Am J Hum Genet 2018 08;103(2):276-287

Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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August 2018

Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.

Clin Imaging 2018 Sep - Oct;51:160-163. Epub 2018 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA; Department of Medicine, Baylor College of Medicine, Houston, One Baylor Plaza, Houston, TX 77030, USA; Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA. Electronic address:

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December 2018

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.

Hum Mol Genet 2017 08;26(16):3046-3055

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.

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August 2017

A metabolic link between the urea cycle and cancer cell proliferation.

Mol Cell Oncol 2016 Mar 18;3(2):e1127314. Epub 2016 Feb 18.

Department of Biological Regulation, Weizmann Institute of Science , Rehovot, Israel.

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March 2016

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.

Hum Mol Genet 2015 Nov 10;24(22):6417-27. Epub 2015 Sep 10.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA,

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November 2015

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Hum Mol Genet 2015 Jul 23;24(14):4061-77. Epub 2015 Apr 23.

Department of Molecular & Human Genetics, Department of Pediatrics and Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA, Texas Children's Hospital, Houston, TX 77030, USA and

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July 2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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June 2015

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):131-5. Epub 2014 Jul 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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June 2015

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.

Hum Mol Genet 2014 Sep 20;23(R1):R1-8. Epub 2014 Mar 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA Howard Hughes Medical Institute, Houston, TX 77030, USA

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September 2014

The practice of adult genetics: a 7-year experience from a single center.

Am J Med Genet A 2013 Jan 13;161A(1):89-93. Epub 2012 Dec 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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January 2013

Optimizing therapy for argininosuccinic aciduria.

Mol Genet Metab 2012 Sep 20;107(1-2):10-4. Epub 2012 Jul 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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September 2012

Argininosuccinate lyase deficiency.

Genet Med 2012 May 5;14(5):501-7. Epub 2012 Jan 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Sandesh C.S. Nagamani

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May 2012