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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.393-400
2016
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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225
2015
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York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
Molecular genetics and metabolism, 2015-03, Vol.114 (3), p.474-482
2015
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MGM and Undiagnosed Diseases
Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108125-108125, Article 108125
2024
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Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis
Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.267-276
2020
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A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
Molecular genetics and metabolism, 2011-08, Vol.103 (4), p.307-314
2011
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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.49-57
2020
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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
Molecular genetics and metabolism, 2017-08, Vol.121 (4), p.336-343
2017
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Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum
Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.44-50
2011
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Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients
Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.188-195
2019
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Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis
Molecular genetics and metabolism, 2011-06, Vol.103 (2), p.128-134
2011
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A safety trial of high dose glyceryl triacetate for Canavan disease
Molecular genetics and metabolism, 2011-07, Vol.103 (3), p.203-206
2011
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Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study
Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108454-108454, Article 108454
2024
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Aortic stenosis and vascular calcifications in alkaptonuria
Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.198-202
2012
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In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer
Molecular genetics and metabolism, 2015-01, Vol.114 (1), p.62-65
2015
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Effect of pirfenidone on the pulmonary fibrosis of Hermansky–Pudlak syndrome
Molecular genetics and metabolism, 2002-07, Vol.76 (3), p.234-242
2002
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In memoriam: Jerry Allan Schneider, 1937–2021
Molecular genetics and metabolism, 2022-07, Vol.136 (3), p.163-163
2022
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Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial
Molecular genetics and metabolism, 2024-09, Vol.143 (1-2), p.108562, Article 108562
2024
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PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation
Molecular genetics and metabolism, 2022-03, Vol.135 (3), p.221-229
2022
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Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.126-134
2017
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Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program
Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107707-107707, Article 107707
2023
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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.82-86
2018
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Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis
Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.168-173
2018
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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center
Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.181-191
2018
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Aortic distensibility in alkaptonuria
Molecular genetics and metabolism, 2020-08, Vol.130 (4), p.289-296
2020
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