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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

Gahl, William A.

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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Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease

Journal of inherited metabolic disease, 2010-06, Vol.33 (3), p.195-210

2010

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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of bone and mineral research, 2021-11, Vol.36 (11), p.2193-2202

2021

Volltextzugriff (PDF)

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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Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia

Journal of bone and mineral research, 2022-11, Vol.37 (11), p.2174-2185

2022

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Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2707-2719

2018

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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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Skeletal Consequences of Nephropathic Cystinosis

Journal of bone and mineral research, 2018-10, Vol.33 (10), p.1870-1880

2018

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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

MGM and Undiagnosed Diseases

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients

Pirfenidone for the treatment of Hermansky–Pudlak syndrome pulmonary fibrosis

A safety trial of high dose glyceryl triacetate for Canavan disease

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study

Aortic stenosis and vascular calcifications in alkaptonuria

In vitro functional correction of Hermansky–Pudlak Syndrome type-1 by lentiviral-mediated gene transfer

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Effect of pirfenidone on the pulmonary fibrosis of Hermansky–Pudlak syndrome

Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Skeletal Consequences of Nephropathic Cystinosis

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