Carlos R Ferreira

Carlos R Ferreira

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Carlos R Ferreira

Carlos R Ferreira

Publications by authors named "Carlos R Ferreira"

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TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Am J Med Genet A 2019 Jul 4;179(7):1293-1298. Epub 2019 Apr 4.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61138DOI Listing
July 2019

The burden of rare diseases.

Am J Med Genet A 2019 Jun 18;179(6):885-892. Epub 2019 Mar 18.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61124DOI Listing
June 2019

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Mol Genet Metab 2019 05 26;127(1):28-30. Epub 2019 Mar 26.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183073
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http://dx.doi.org/10.1016/j.ymgme.2019.03.007DOI Listing
May 2019

Corrigendum to "The human phenotype of ornithine decarboxylase superactivity: a new syndrome".

Am J Med Genet A 2019 Apr 15;179(4):747-748. Epub 2019 Feb 15.

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http://dx.doi.org/10.1002/ajmg.a.61064DOI Listing
April 2019

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Mol Genet Metab 2019 Apr 12. Epub 2019 Apr 12.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.04.002DOI Listing
April 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

A proposed nosology of inborn errors of metabolism.

Genet Med 2019 01 8;21(1):102-106. Epub 2018 Jun 8.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.

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http://www.nature.com/articles/s41436-018-0022-8
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http://dx.doi.org/10.1038/s41436-018-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709PMC
January 2019

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

Front Neurol 2018 3;9:1016. Epub 2018 Dec 3.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.

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http://dx.doi.org/10.3389/fneur.2018.01016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286965PMC
December 2018

The human phenotype of ornithine decarboxylase superactivity: A new syndrome.

Am J Med Genet A 2018 Dec 20;176(12):2545-2547. Epub 2018 Dec 20.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.13DOI Listing
December 2018

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Am J Med Genet A 2018 Nov 5;176(11):2451-2455. Epub 2018 Oct 5.

Division of Dermatology, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.40485DOI Listing
November 2018

Recognizable phenotypes in CDG.

J Inherit Metab Dis 2018 May 13;41(3):541-553. Epub 2018 Apr 13.

Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.

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http://link.springer.com/10.1007/s10545-018-0156-5
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http://dx.doi.org/10.1007/s10545-018-0156-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960425PMC
May 2018

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Transl Sci Rare Dis 2018 Apr 13;3(1):37-43. Epub 2018 Apr 13.

Division of Genetics and Metabolism, Children'sNational Health System, Washington, DC, USA.

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http://dx.doi.org/10.3233/TRD-180022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904567PMC
April 2018

Confirmation that p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

Mol Genet Metab Rep 2017 Dec 15;13:9-12. Epub 2017 Jul 15.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269173006
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http://dx.doi.org/10.1016/j.ymgmr.2017.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512230PMC
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Disorders of metal metabolism.

Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/TRD-170015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764069PMC
December 2017

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Mol Genet Genomic Med 2017 Jul 16;5(4):307-316. Epub 2017 Jul 16.

National Human Genome Research InstituteNational Institutes of HealthBethesdaMaryland.

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http://dx.doi.org/10.1002/mgg3.318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511798PMC
July 2017

Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

Am J Med Genet A 2017 Jun 12;173(6):1502-1513. Epub 2017 Apr 12.

Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.38189DOI Listing
June 2017

Lysosomal storage diseases.

Transl Sci Rare Dis 2017 May 25;2(1-2):1-71. Epub 2017 May 25.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/TRD-160005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685203PMC
May 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Mol Genet Metab 2017 03 18;120(3):288-294. Epub 2016 Dec 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346474PMC
March 2017

Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.

Mol Genet Metab Rep 2017 Mar 16;10:81-82. Epub 2017 Jan 16.

National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 9N248B, Bethesda, MD 20892-1851, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2016.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241583PMC
March 2017

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Am J Med Genet A 2017 Feb 31;173(2):501-509. Epub 2016 Oct 31.

Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.38023DOI Listing
February 2017

Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

Am J Med Genet A 2016 May 9;170A(5):1308-11. Epub 2016 Feb 9.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833596PMC
May 2016