Search Results - Ferreira, Carlos R.

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  1. 1
    Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data

    Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data by Ferreira, Carlos R.

    Published 2017
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  2. 2
    Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

    Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease. by Ferreira, Carlos R., Blau, Nenad

    Published 2020
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  3. 3
    Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency

    Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency by Ferreira, Carlos R., Cusmano-Ozog, Kristina

    Published 2016
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  4. 4
    Lysosomal storage diseases

    Lysosomal storage diseases by Ferreira, Carlos R., Gahl, William A.

    Published 2017
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  5. 5
    Disorders of metal metabolism

    Disorders of metal metabolism by Ferreira, Carlos R., Gahl, William A.

    Published 2017
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  6. 6
    Response to Stern et al.

    Response to Stern et al. by Ziegler, Shira G., Ferreira, Carlos R.

    Published 2021
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  7. 7
    Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature

    Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature by Tender, Jennifer A.F., Ferreira, Carlos R.

    Published 2018
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  8. 8
    Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

    Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. by Ferreira, Carlos R., Martinelli, Diego, Blau, Nenad

    Published 2021
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  9. 9
    Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.

    Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias. by Jerves, Teodoro, Blau, Nenad, Ferreira, Carlos R.

    Published 2022
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  10. 10
    Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

    Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD) by Kaler, Stephen G., Ferreira, Carlos R., Yam, Lung S.

    Published 2020
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  11. 11
    Hip Geometry Variation in Homozygous Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficient Patients

    Hip Geometry Variation in Homozygous Ectonucleotide Pyrophosphatase/ Phosphodiesterase 1 (ENPP1) Deficient Patients by Theng, Elizabeth H, Gafni, Rachel Ilana, Ferreira, Carlos R

    Published 2021
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  12. 12
    An International Classification of Inherited Metabolic Disorders (ICIMD)

    An International Classification of Inherited Metabolic Disorders (ICIMD) by Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes

    Published 2021
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  13. 13
    2022 Overview of Metabolic Epilepsies

    2022 Overview of Metabolic Epilepsies by Tumiene, Birute, Ferreira, Carlos R., van Karnebeek, Clara D. M.

    Published 2022
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  14. 14
    Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

    Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis by Alqarajeh, Firas, Omorodion, Jacklyn, Bosfield, Kerri, Shur, Natasha, Ferreira, Carlos R.

    Published 2020
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  15. 15
    Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries

    Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries by Regier, Debra S., Ferreira, Carlos R., Hart, Suzanne, Hadley, Donald W., Muenke, Maximilian

    Published 2017
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  16. 16
    A proposed nosology of inborn errors of metabolism

    A proposed nosology of inborn errors of metabolism by Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad

    Published 2018
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  17. 17
    Pharmacokinetics of oral l-serine supplementation in a single patient

    Pharmacokinetics of oral l-serine supplementation in a single patient by Miller, Danny E., Ferreira, Carlos R., Scott, Anna I., Chang, Irene J.

    Published 2020
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  18. 18
    Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS

    Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid P... by Ferreira, Carlos R., Silber, Molly H., Chang, Taeun, Murnick, Jonathan G., Kirmse, Brian

    Published 2015
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  19. 19
    Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

    Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease by Ferreira, Carlos R., Regier, Debra S., Hadley, Donald W., Hart, P. Suzanne, Muenke, Maximilian

    Published 2017
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  20. 20
    Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia

    Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia by Muriello, Michael J., Viall, Sarah, Bottiglieri, Teodoro, Cusmano-Ozog, Kristina, Ferreira, Carlos R.

    Published 2017
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