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Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA.

Molecular diagnosis & therapy

Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E.
PMID: 28266003
Mol Diagn Ther. 2017 Apr;21(2):233. doi: 10.1007/s40291-017-0273-0.

No abstract available.

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Minucci A, De Bonis M, De Paolis E, et al. Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. Mol Diagn Ther. 2017;21(2):233doi: 10.1007/s40291-017-0273-0.
Minucci, A., De Bonis, M., De Paolis, E., Gentile, L., Santonocito, C., Concolino, P., Mignone, F., & Capoluongo, E. (2017). Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. Molecular diagnosis & therapy, 21(2), 233. https://doi.org/10.1007/s40291-017-0273-0
Minucci, Angelo, et al. "Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA." Molecular diagnosis & therapy vol. 21,2 (2017): 233. doi: https://doi.org/10.1007/s40291-017-0273-0
Minucci A, De Bonis M, De Paolis E, Gentile L, Santonocito C, Concolino P, Mignone F, Capoluongo E. Erratum to: High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. Mol Diagn Ther. 2017 Apr;21(2):233. doi: 10.1007/s40291-017-0273-0. PMID: 28266003.
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High-Q resonant cavities for terahertz quantum cascade lasers.

Optics express

Campa A, Consolino L, Ravaro M, Mazzotti D, Vitiello MS, Bartalini S, De Natale P.
PMID: 25836227
Opt Express. 2015 Feb 09;23(3):3751-61. doi: 10.1364/OE.23.003751.

We report on the realization and characterization of two different designs for resonant THz cavities, based on wire-grid polarizers as input/output couplers, and injected by a continuous-wave quantum cascade laser (QCL) emitting at 2.55 THz. A comparison between the...

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Campa A, Consolino L, Ravaro M, et al. High-Q resonant cavities for terahertz quantum cascade lasers. Opt Express. 2015;23(3):3751-61doi: 10.1364/OE.23.003751.
Campa, A., Consolino, L., Ravaro, M., Mazzotti, D., Vitiello, M. S., Bartalini, S., & De Natale, P. (2015). High-Q resonant cavities for terahertz quantum cascade lasers. Optics express, 23(3), 3751-61. https://doi.org/10.1364/OE.23.003751
Campa, A, et al. "High-Q resonant cavities for terahertz quantum cascade lasers." Optics express vol. 23,3 (2015): 3751-61. doi: https://doi.org/10.1364/OE.23.003751
Campa A, Consolino L, Ravaro M, Mazzotti D, Vitiello MS, Bartalini S, De Natale P. High-Q resonant cavities for terahertz quantum cascade lasers. Opt Express. 2015 Feb 09;23(3):3751-61. doi: 10.1364/OE.23.003751. PMID: 25836227.
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Sterically encumbered systems for two low-coordinate phosphorus centers.

Inorganic chemistry

Shah S, Concolino T, Rheingold AL, Protasiewicz JD.
PMID: 11196781
Inorg Chem. 2000 Aug 21;39(17):3860-7. doi: 10.1021/ic0001558.

Tetraarylphenyls of the form 2,3,5,6-Ar4C6 (Ar = p-tert-butylphenyl) are investigated as sterically demanding ligands for the syntheses of compounds having two p-phenylene-bridged phosphorus centers. The precursor to such materials, 1,4-diiodo-2,3,5,6-tetrakis(p-tert-butylphenyl)benzene (1), is readily obtained via a one-pot procedure in...

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Shah S, Concolino T, Rheingold AL, et al. Sterically encumbered systems for two low-coordinate phosphorus centers. Inorg Chem. 2000;39(17):3860-7doi: 10.1021/ic0001558.
Shah, S., Concolino, T., Rheingold, A. L., & Protasiewicz, J. D. (2000). Sterically encumbered systems for two low-coordinate phosphorus centers. Inorganic chemistry, 39(17), 3860-7. https://doi.org/10.1021/ic0001558
Shah, S, et al. "Sterically encumbered systems for two low-coordinate phosphorus centers." Inorganic chemistry vol. 39,17 (2000): 3860-7. doi: https://doi.org/10.1021/ic0001558
Shah S, Concolino T, Rheingold AL, Protasiewicz JD. Sterically encumbered systems for two low-coordinate phosphorus centers. Inorg Chem. 2000 Aug 21;39(17):3860-7. doi: 10.1021/ic0001558. PMID: 11196781.
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Syntheses and structures of methyltris(pyrazolyl)silane complexes of the group 6 metals.

Inorganic chemistry

Pullen EE, Rabinovich D, Incarvito CD, Concolino TE, Rheingold AL.
PMID: 12526465
Inorg Chem. 2000 Apr 03;39(7):1561-7. doi: 10.1021/ic990945l.

The methyltris(3,5-dimethylpyrazolyl)silane ligand, TpsMe2, was readily prepared by the metathesis reaction of methyltrichlorosilane with 3 equiv of lithium 3,5-dimethylpyrazolate. The octahedral tricarbonyl complexes (TpsMe2)M(CO)3 were synthesized either by ligand exchange with the labile nitrile adducts M(CO)3(NCR)3 (M = Cr,...

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Pullen EE, Rabinovich D, Incarvito CD, et al. Syntheses and structures of methyltris(pyrazolyl)silane complexes of the group 6 metals. Inorg Chem. 2000;39(7):1561-7doi: 10.1021/ic990945l.
Pullen, E. E., Rabinovich, D., Incarvito, C. D., Concolino, T. E., & Rheingold, A. L. (2000). Syntheses and structures of methyltris(pyrazolyl)silane complexes of the group 6 metals. Inorganic chemistry, 39(7), 1561-7. https://doi.org/10.1021/ic990945l
Pullen, E E, et al. "Syntheses and structures of methyltris(pyrazolyl)silane complexes of the group 6 metals." Inorganic chemistry vol. 39,7 (2000): 1561-7. doi: https://doi.org/10.1021/ic990945l
Pullen EE, Rabinovich D, Incarvito CD, Concolino TE, Rheingold AL. Syntheses and structures of methyltris(pyrazolyl)silane complexes of the group 6 metals. Inorg Chem. 2000 Apr 03;39(7):1561-7. doi: 10.1021/ic990945l. PMID: 12526465.
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Single-molecule magnets: structure and properties of [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 with spin S = 13.

Inorganic chemistry

Brechin EK, Sañudo EC, Wernsdorfer W, Boskovic C, Yoo J, Hendrickson DN, Yamaguchi A, Ishimoto H, Concolino TE, Rheingold AL, Christou G.
PMID: 15679378
Inorg Chem. 2005 Feb 07;44(3):502-11. doi: 10.1021/ic048857a.

The reaction of 2-(hydroxyethyl)pyridine (hepH) with a 2:1 molar mixture of [Mn3O(O2CMe)6(py)3]ClO4 and [Mn3O(O2CMe)6(py)3] in MeCN afforded the new mixed-valent (16Mn(III), 2Mn(II)), octadecanuclear complex [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 (1) in 20% yield. Complex 1 crystallizes in the triclinic space group P. Direct...

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Brechin EK, Sañudo EC, Wernsdorfer W, et al. Single-molecule magnets: structure and properties of [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 with spin S = 13. Inorg Chem. 2005;44(3):502-11doi: 10.1021/ic048857a.
Brechin, E. K., Sañudo, E. C., Wernsdorfer, W., Boskovic, C., Yoo, J., Hendrickson, D. N., Yamaguchi, A., Ishimoto, H., Concolino, T. E., Rheingold, A. L., & Christou, G. (2005). Single-molecule magnets: structure and properties of [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 with spin S = 13. Inorganic chemistry, 44(3), 502-11. https://doi.org/10.1021/ic048857a
Brechin, E K, et al. "Single-molecule magnets: structure and properties of [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 with spin S = 13." Inorganic chemistry vol. 44,3 (2005): 502-11. doi: https://doi.org/10.1021/ic048857a
Brechin EK, Sañudo EC, Wernsdorfer W, Boskovic C, Yoo J, Hendrickson DN, Yamaguchi A, Ishimoto H, Concolino TE, Rheingold AL, Christou G. Single-molecule magnets: structure and properties of [Mn18O14(O2CMe)18(hep)4(hepH)2(H2O)2](ClO4)2 with spin S = 13. Inorg Chem. 2005 Feb 07;44(3):502-11. doi: 10.1021/ic048857a. PMID: 15679378.
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Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.

Human genome variation

Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E.
PMID: 29760936
Hum Genome Var. 2018 Apr 20;5:2. doi: 10.1038/s41439-018-0003-0. eCollection 2018.

Extensive molecular screening of the

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Minucci A, Concolino P, De Bonis M, et al. Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Hum Genome Var. 2018;5:2doi: 10.1038/s41439-018-0003-0.
Minucci, A., Concolino, P., De Bonis, M., Costella, A., Paris, I., Scambia, G., & Capoluongo, E. (2018). Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Human genome variation, 52. https://doi.org/10.1038/s41439-018-0003-0
Minucci, Angelo, et al. "Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome." Human genome variation vol. 5 (2018): 2. doi: https://doi.org/10.1038/s41439-018-0003-0
Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E. Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. Hum Genome Var. 2018 Apr 20;5:2. doi: 10.1038/s41439-018-0003-0. eCollection 2018. PMID: 29760936; PMCID: PMC5938031.
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.

Molecular genetics and metabolism reports

Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E.
PMID: 28702361
Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep.

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in...

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Concolino D, Amico L, Cappellini MD, et al. Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. Mol Genet Metab Rep. 2017;12:85-91doi: 10.1016/j.ymgmr.2017.06.005.
Concolino, D., Amico, L., Cappellini, M. D., Cassinerio, E., Conti, M., Donati, M. A., Falvo, F., Fiumara, A., Maccarone, M., Manna, R., Matucci, A., Musumeci, M. B., Nicoletti, A., Nisticò, R., Papadia, F., Parini, R., Peluso, D., Pensabene, L., Pisani, A., Pistone, G., Rigoldi, M., Romani, I., Tenuta, M., Torti, G., Veroux, M., & Zachara, E. (2017). Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. Molecular genetics and metabolism reports, 1285-91. https://doi.org/10.1016/j.ymgmr.2017.06.005
Concolino, D, et al. "Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group." Molecular genetics and metabolism reports vol. 12 (2017): 85-91. doi: https://doi.org/10.1016/j.ymgmr.2017.06.005
Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E. Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group. Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep. PMID: 28702361; PMCID: PMC5484973.
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The Relationship Between Personality and Neurocognition Among the American Elderly: An Epidemiologic Study.

Clinical practice and epidemiology in mental health : CP & EMH

Maldonato NM, Sperandeo R, Dell'Orco S, Cozzolino P, Fusco ML, Iorio VS, Albesi D, Marone P, Nascivera N, Cipresso P.
PMID: 29299046
Clin Pract Epidemiol Ment Health. 2017 Nov 28;13:233-245. doi: 10.2174/1745017901713010233. eCollection 2017.

BACKGROUND: Although different personality traits have often been associated with different levels of mental activity and cognitive functioning, no previous studies have evaluated the association in a sample that mirrors a nationally-representative sample of elderly individuals.OBJECTIVE: To evaluate the...

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Maldonato NM, Sperandeo R, Dell'Orco S, et al. The Relationship Between Personality and Neurocognition Among the American Elderly: An Epidemiologic Study. Clin Pract Epidemiol Ment Health. 2017;13:233-245doi: 10.2174/1745017901713010233.
Maldonato, N. M., Sperandeo, R., Dell'Orco, S., Cozzolino, P., Fusco, M. L., Iorio, V. S., Albesi, D., Marone, P., Nascivera, N., & Cipresso, P. (2017). The Relationship Between Personality and Neurocognition Among the American Elderly: An Epidemiologic Study. Clinical practice and epidemiology in mental health : CP & EMH, 13233-245. https://doi.org/10.2174/1745017901713010233
Maldonato, Nelson Mauro, et al. "The Relationship Between Personality and Neurocognition Among the American Elderly: An Epidemiologic Study." Clinical practice and epidemiology in mental health : CP & EMH vol. 13 (2017): 233-245. doi: https://doi.org/10.2174/1745017901713010233
Maldonato NM, Sperandeo R, Dell'Orco S, Cozzolino P, Fusco ML, Iorio VS, Albesi D, Marone P, Nascivera N, Cipresso P. The Relationship Between Personality and Neurocognition Among the American Elderly: An Epidemiologic Study. Clin Pract Epidemiol Ment Health. 2017 Nov 28;13:233-245. doi: 10.2174/1745017901713010233. eCollection 2017. PMID: 29299046; PMCID: PMC5725479.
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Fabry disease and kidney involvement: starting from childhood to understand the future.

Pediatric nephrology (Berlin, Germany)

Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A.
PMID: 33928440
Pediatr Nephrol. 2022 Jan;37(1):95-103. doi: 10.1007/s00467-021-05076-x. Epub 2021 Apr 30.

The accumulation of globotriaosylceramide (Gb-3) in multiple organs, such as the heart, kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene, represents the key point of Fabry disease (FD). The common symptoms appear in childhood...

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Chimenz R, Chirico V, Cuppari C, et al. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol. 2021;37(1):95-103doi: 10.1007/s00467-021-05076-x.
Chimenz, R., Chirico, V., Cuppari, C., Ceravolo, G., Concolino, D., Monardo, P., & Lacquaniti, A. (2022). Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatric nephrology (Berlin, Germany), 37(1), 95-103. https://doi.org/10.1007/s00467-021-05076-x
Chimenz, Roberto, et al. "Fabry disease and kidney involvement: starting from childhood to understand the future." Pediatric nephrology (Berlin, Germany) vol. 37,1 (2022): 95-103. doi: https://doi.org/10.1007/s00467-021-05076-x
Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol. 2022 Jan;37(1):95-103. doi: 10.1007/s00467-021-05076-x. Epub 2021 Apr 30. PMID: 33928440.
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Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome.

Journal of pediatric genetics

Bruni V, Scozzafava C, Gnazzo M, Parisi F, Sestito S, Pensabene L, Novelli A, Concolino D.
PMID: 33552639
J Pediatr Genet. 2021 Mar;10(1):49-52. doi: 10.1055/s-0040-1701645. Epub 2020 Feb 17.

Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac and urological malformations are...

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Bruni V, Scozzafava C, Gnazzo M, et al. Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome. J Pediatr Genet. 2020;10(1):49-52doi: 10.1055/s-0040-1701645.
Bruni, V., Scozzafava, C., Gnazzo, M., Parisi, F., Sestito, S., Pensabene, L., Novelli, A., & Concolino, D. (2021). Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome. Journal of pediatric genetics, 10(1), 49-52. https://doi.org/10.1055/s-0040-1701645
Bruni, Valentina, et al. "Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome." Journal of pediatric genetics vol. 10,1 (2021): 49-52. doi: https://doi.org/10.1055/s-0040-1701645
Bruni V, Scozzafava C, Gnazzo M, Parisi F, Sestito S, Pensabene L, Novelli A, Concolino D. Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome. J Pediatr Genet. 2021 Mar;10(1):49-52. doi: 10.1055/s-0040-1701645. Epub 2020 Feb 17. PMID: 33552639; PMCID: PMC7853907.
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Fabry disease and kidney involvement: starting from childhood to understand the future.

Pediatric nephrology (Berlin, Germany)

Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A.
PMID: 33928440
Pediatr Nephrol. 2022 Jan;37(1):95-103. doi: 10.1007/s00467-021-05076-x. Epub 2021 Apr 30.

The accumulation of globotriaosylceramide (Gb-3) in multiple organs, such as the heart, kidney, and nervous system, due to mutations in the galactosidase alpha (GLA) gene, represents the key point of Fabry disease (FD). The common symptoms appear in childhood...

Cite
Chimenz R, Chirico V, Cuppari C, et al. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol. 2021;37(1):95-103doi: 10.1007/s00467-021-05076-x.
Chimenz, R., Chirico, V., Cuppari, C., Ceravolo, G., Concolino, D., Monardo, P., & Lacquaniti, A. (2022). Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatric nephrology (Berlin, Germany), 37(1), 95-103. https://doi.org/10.1007/s00467-021-05076-x
Chimenz, Roberto, et al. "Fabry disease and kidney involvement: starting from childhood to understand the future." Pediatric nephrology (Berlin, Germany) vol. 37,1 (2022): 95-103. doi: https://doi.org/10.1007/s00467-021-05076-x
Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, Lacquaniti A. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol. 2022 Jan;37(1):95-103. doi: 10.1007/s00467-021-05076-x. Epub 2021 Apr 30. PMID: 33928440.
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Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Nutrients

Scala I, Concolino D, Nastasi A, Esposito G, Crisci D, Sestito S, Ferraro S, Albano L, Ruoppolo M, Parenti G, Strisciuglio P.
PMID: 34836270
Nutrients. 2021 Nov 10;13(11). doi: 10.3390/nu13114012.

The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients. Adhering to this diet is challenging, and even patients with good metabolic control who follow the dietary prescriptions in everyday life...

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Scala I, Concolino D, Nastasi A, et al. Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria. Nutrients. 2021;13(11)doi: 10.3390/nu13114012.
Scala, I., Concolino, D., Nastasi, A., Esposito, G., Crisci, D., Sestito, S., Ferraro, S., Albano, L., Ruoppolo, M., Parenti, G., & Strisciuglio, P. (2021). Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria. Nutrients, 13(11), . https://doi.org/10.3390/nu13114012
Scala, Iris, et al. "Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria." Nutrients vol. 13,11 (2021). doi: https://doi.org/10.3390/nu13114012
Scala I, Concolino D, Nastasi A, Esposito G, Crisci D, Sestito S, Ferraro S, Albano L, Ruoppolo M, Parenti G, Strisciuglio P. Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria. Nutrients. 2021 Nov 10;13(11). doi: 10.3390/nu13114012. PMID: 34836270; PMCID: PMC8618154.
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