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Showing 1 to 12 of 22 entries
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When Rett syndrome is due to genes other than .

Translational science of rare diseases

Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL.
PMID: 29682453
Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021.

Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in

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Percy AK, Lane J, Annese F, et al. When Rett syndrome is due to genes other than . Transl Sci Rare Dis. 2018;3(1):49-53doi: 10.3233/TRD-180021.
Percy, A. K., Lane, J., Annese, F., Warren, H., Skinner, S. A., & Neul, J. L. (2018). When Rett syndrome is due to genes other than . Translational science of rare diseases, 3(1), 49-53. https://doi.org/10.3233/TRD-180021
Percy, Alan K, et al. "When Rett syndrome is due to genes other than ." Translational science of rare diseases vol. 3,1 (2018): 49-53. doi: https://doi.org/10.3233/TRD-180021
Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL. When Rett syndrome is due to genes other than . Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021. PMID: 29682453; PMCID: PMC5900556.
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Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies.

Translational science of rare diseases

Chen HY, Welby E, Li T, Swaroop A.
PMID: 31763178
Transl Sci Rare Dis. 2019 Jul 04;4(1):97-115. doi: 10.3233/TRD-190038.

Ciliopathies display extensive genetic and clinical heterogeneity, varying in severity, age of onset, disease progression and organ systems affected. Retinal involvement, as demonstrated by photoreceptor dysfunction or death, is a highly penetrant phenotype among a vast majority of ciliopathies....

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Chen HY, Welby E, Li T, et al. Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Transl Sci Rare Dis. 2019;4(1):97-115doi: 10.3233/TRD-190038.
Chen, H. Y., Welby, E., Li, T., & Swaroop, A. (2019). Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Translational science of rare diseases, 4(1), 97-115. https://doi.org/10.3233/TRD-190038
Chen, Holly Yu, et al. "Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies." Translational science of rare diseases vol. 4,1 (2019): 97-115. doi: https://doi.org/10.3233/TRD-190038
Chen HY, Welby E, Li T, Swaroop A. Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Transl Sci Rare Dis. 2019 Jul 04;4(1):97-115. doi: 10.3233/TRD-190038. PMID: 31763178; PMCID: PMC6839492.
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Regenerative Medicine Therapies for Rare Diseases.

Translational science of rare diseases

Lapteva L, Vatsan R, Purohit-Sheth T.
PMID: 30613470
Transl Sci Rare Dis. 2018 Dec 20;3(3):121-132. doi: 10.3233/TRD-180030.

The field of regenerative medicine is growing rapidly with the introduction of new therapies that have the potential to treat and cure serious medical conditions, including rare diseases, for which there are no available treatments. In the United States,...

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Lapteva L, Vatsan R, Purohit-Sheth T. Regenerative Medicine Therapies for Rare Diseases. Transl Sci Rare Dis. 2018;3(3):121-132doi: 10.3233/TRD-180030.
Lapteva, L., Vatsan, R., & Purohit-Sheth, T. (2018). Regenerative Medicine Therapies for Rare Diseases. Translational science of rare diseases, 3(3), 121-132. https://doi.org/10.3233/TRD-180030
Lapteva, Larissa, et al. "Regenerative Medicine Therapies for Rare Diseases." Translational science of rare diseases vol. 3,3 (2018): 121-132. doi: https://doi.org/10.3233/TRD-180030
Lapteva L, Vatsan R, Purohit-Sheth T. Regenerative Medicine Therapies for Rare Diseases. Transl Sci Rare Dis. 2018 Dec 20;3(3):121-132. doi: 10.3233/TRD-180030. PMID: 30613470; PMCID: PMC6311534.
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Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.

Translational science of rare diseases

Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR.
PMID: 33134088
Transl Sci Rare Dis. 2020 Aug 03;5(1):81-86. doi: 10.3233/TRD-190035.

BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss...

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Alqarajeh F, Omorodion J, Bosfield K, et al. Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Transl Sci Rare Dis. 2020;5(1):81-86doi: 10.3233/TRD-190035.
Alqarajeh, F., Omorodion, J., Bosfield, K., Shur, N., & Ferreira, C. R. (2020). Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Translational science of rare diseases, 5(1), 81-86. https://doi.org/10.3233/TRD-190035
Alqarajeh, Firas, et al. "Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis." Translational science of rare diseases vol. 5,1 (2020): 81-86. doi: https://doi.org/10.3233/TRD-190035
Alqarajeh F, Omorodion J, Bosfield K, Shur N, Ferreira CR. Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Transl Sci Rare Dis. 2020 Aug 03;5(1):81-86. doi: 10.3233/TRD-190035. PMID: 33134088; PMCID: PMC7590902.
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Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Translational science of rare diseases

Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M.
PMID: 30613471
Transl Sci Rare Dis. 2018 Dec 20;3(3):157-170. doi: 10.3233/TRD-180031.

Organic acidemias and urea cycle disorders are ultra-rare inborn errors of metabolism characterized by episodic acute decompensation, often associated with hyperammonemia, resulting in brain edema and encephalopathy. Retrospective reports and translational studies suggest that N-carbamylglutamate (NCG) may be effective...

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Ah Mew N, Cnaan A, McCarter R, et al. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018;3(3):157-170doi: 10.3233/TRD-180031.
Ah Mew, N., Cnaan, A., McCarter, R., Choi, H., Glass, P., Rice, K., Scavo, L., Gillespie, C. W., Diaz, G. A., Berry, G. T., Wong, D., Konczal, L., McCandless, S. E., Coughlin Ii, C. R., Weisfeld-Adams, J. D., Ficicioglu, C., Yudkoff, M., Enns, G. M., Lichter-Konecki, U., Gallagher, R., & Tuchman, M. (2018). Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Translational science of rare diseases, 3(3), 157-170. https://doi.org/10.3233/TRD-180031
Ah Mew, Nicholas, et al. "Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium." Translational science of rare diseases vol. 3,3 (2018): 157-170. doi: https://doi.org/10.3233/TRD-180031
Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20;3(3):157-170. doi: 10.3233/TRD-180031. PMID: 30613471; PMCID: PMC6311376.
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Lysosomal storage diseases.

Translational science of rare diseases

Ferreira CR, Gahl WA.
PMID: 29152458
Transl Sci Rare Dis. 2017 May 25;2(1):1-71. doi: 10.3233/TRD-160005.

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in...

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Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1):1-71doi: 10.3233/TRD-160005.
Ferreira, C. R., & Gahl, W. A. (2017). Lysosomal storage diseases. Translational science of rare diseases, 2(1), 1-71. https://doi.org/10.3233/TRD-160005
Ferreira, Carlos R, and Gahl, William A. "Lysosomal storage diseases." Translational science of rare diseases vol. 2,1 (2017): 1-71. doi: https://doi.org/10.3233/TRD-160005
Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017 May 25;2(1):1-71. doi: 10.3233/TRD-160005. PMID: 29152458; PMCID: PMC5685203.
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Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Translational science of rare diseases

Tender JAF, Ferreira CR.
PMID: 29682451
Transl Sci Rare Dis. 2018 Apr 13;3(1):37-43. doi: 10.3233/TRD-180022.

BACKGROUND: Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome.OBJECTIVE: To describe two siblings with features consistent with CFTD with...

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Tender JAF, Ferreira CR. 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;3(1):37-43doi: 10.3233/TRD-180022.
Tender, J. A. F., & Ferreira, C. R. (2018). Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature. Translational science of rare diseases, 3(1), 37-43. https://doi.org/10.3233/TRD-180022
Tender, Jennifer A F, and Ferreira, Carlos R. "Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature." Translational science of rare diseases vol. 3,1 (2018): 37-43. doi: https://doi.org/10.3233/TRD-180022
Tender JAF, Ferreira CR. 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. doi: 10.3233/TRD-180022. PMID: 29682451; PMCID: PMC5904567.
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Disorders of metal metabolism.

Translational science of rare diseases

Ferreira CR, Gahl WA.
PMID: 29354481
Transl Sci Rare Dis. 2017 Dec 18;2(3):101-139. doi: 10.3233/TRD-170015.

Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals....

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Ferreira CR, Gahl WA. Disorders of metal metabolism. Transl Sci Rare Dis. 2017;2(3):101-139doi: 10.3233/TRD-170015.
Ferreira, C. R., & Gahl, W. A. (2017). Disorders of metal metabolism. Translational science of rare diseases, 2(3), 101-139. https://doi.org/10.3233/TRD-170015
Ferreira, Carlos R, and Gahl, William A. "Disorders of metal metabolism." Translational science of rare diseases vol. 2,3 (2017): 101-139. doi: https://doi.org/10.3233/TRD-170015
Ferreira CR, Gahl WA. Disorders of metal metabolism. Transl Sci Rare Dis. 2017 Dec 18;2(3):101-139. doi: 10.3233/TRD-170015. PMID: 29354481; PMCID: PMC5764069.
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Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland.

Translational science of rare diseases

Coors M, Bauer L, Edwards K, Erickson K, Goldenberg A, Goodale J, Goodman K, Grady C, Mannino D, Wanner A, Wilson T, Yarborough M, Zirkle M.
PMID: 29430401
Transl Sci Rare Dis. 2017 Dec 18;2(3):175-194. doi: 10.3233/TRD-170013.

No abstract available.

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Coors M, Bauer L, Edwards K, et al. Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland. Transl Sci Rare Dis. 2017;2(3):175-194doi: 10.3233/TRD-170013.
Coors, M., Bauer, L., Edwards, K., Erickson, K., Goldenberg, A., Goodale, J., Goodman, K., Grady, C., Mannino, D., Wanner, A., Wilson, T., Yarborough, M., & Zirkle, M. (2017). Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland. Translational science of rare diseases, 2(3), 175-194. https://doi.org/10.3233/TRD-170013
Coors, Marilyn, et al. "Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland." Translational science of rare diseases vol. 2,3 (2017): 175-194. doi: https://doi.org/10.3233/TRD-170013
Coors M, Bauer L, Edwards K, Erickson K, Goldenberg A, Goodale J, Goodman K, Grady C, Mannino D, Wanner A, Wilson T, Yarborough M, Zirkle M. Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland. Transl Sci Rare Dis. 2017 Dec 18;2(3):175-194. doi: 10.3233/TRD-170013. PMID: 29430401; PMCID: PMC5764070.
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Gene Therapy for Metabolic Diseases.

Translational science of rare diseases

Chandler RJ, Venditti CP.
PMID: 27853673
Transl Sci Rare Dis. 2016;1(1):73-89. doi: 10.3233/TRD-160007.

Gene therapy has recently shown great promise as an effective treatment for a number of metabolic diseases caused by genetic defects in both animal models and human clinical trials. Most of the current success has been achieved using a...

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Chandler RJ, Venditti CP. Gene Therapy for Metabolic Diseases. Transl Sci Rare Dis. 2016;1(1):73-89doi: 10.3233/TRD-160007.
Chandler, R. J., & Venditti, C. P. (2016). Gene Therapy for Metabolic Diseases. Translational science of rare diseases, 1(1), 73-89. https://doi.org/10.3233/TRD-160007
Chandler, Randy J, and Venditti, Charles P. "Gene Therapy for Metabolic Diseases." Translational science of rare diseases vol. 1,1 (2016): 73-89. doi: https://doi.org/10.3233/TRD-160007
Chandler RJ, Venditti CP. Gene Therapy for Metabolic Diseases. Transl Sci Rare Dis. 2016;1(1):73-89. doi: 10.3233/TRD-160007. PMID: 27853673; PMCID: PMC5108627.
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Clinical characteristics of individual organ system disease in non-motile ciliopathies.

Translational science of rare diseases

Grochowsky A, Gunay-Aygun M.
PMID: 31763176
Transl Sci Rare Dis. 2019 Jul 04;4(1):1-23. doi: 10.3233/TRD-190033.

Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndromes, and Jeune chondrodysplasia and other skeletal ciliopathies. Chronic progressive disease of the...

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Grochowsky A, Gunay-Aygun M. Clinical characteristics of individual organ system disease in non-motile ciliopathies. Transl Sci Rare Dis. 2019;4(1):1-23doi: 10.3233/TRD-190033.
Grochowsky, A., & Gunay-Aygun, M. (2019). Clinical characteristics of individual organ system disease in non-motile ciliopathies. Translational science of rare diseases, 4(1), 1-23. https://doi.org/10.3233/TRD-190033
Grochowsky, Angela, and Gunay-Aygun, Meral. "Clinical characteristics of individual organ system disease in non-motile ciliopathies." Translational science of rare diseases vol. 4,1 (2019): 1-23. doi: https://doi.org/10.3233/TRD-190033
Grochowsky A, Gunay-Aygun M. Clinical characteristics of individual organ system disease in non-motile ciliopathies. Transl Sci Rare Dis. 2019 Jul 04;4(1):1-23. doi: 10.3233/TRD-190033. PMID: 31763176; PMCID: PMC6864414.
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Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.

Translational science of rare diseases

Beck DB, Cusmano-Ozog K, Andescavage N, Leon E.
PMID: 29682452
Transl Sci Rare Dis. 2018 Apr 13;3(1):45-48. doi: 10.3233/TRD-180020.

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis,...

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Beck DB, Cusmano-Ozog K, Andescavage N, et al. Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Transl Sci Rare Dis. 2018;3(1):45-48doi: 10.3233/TRD-180020.
Beck, D. B., Cusmano-Ozog, K., Andescavage, N., & Leon, E. (2018). Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Translational science of rare diseases, 3(1), 45-48. https://doi.org/10.3233/TRD-180020
Beck, David B, et al. "Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction." Translational science of rare diseases vol. 3,1 (2018): 45-48. doi: https://doi.org/10.3233/TRD-180020
Beck DB, Cusmano-Ozog K, Andescavage N, Leon E. Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Transl Sci Rare Dis. 2018 Apr 13;3(1):45-48. doi: 10.3233/TRD-180020. PMID: 29682452; PMCID: PMC5904566.
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Showing 1 to 12 of 22 entries