(Q35145713)

English

The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases

scientific article

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases (English)

1 reference

Europe PubMed Central

6 August 2017

1 reference

based on heuristic

inferred from title

author name string

Brigitta E Miyamoto

1

1 reference

Europe PubMed Central

6 August 2017

Emil D Kakkis

2

1 reference

Europe PubMed Central

6 August 2017

publication date

6 July 2011

1 reference

Europe PubMed Central

6 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

6 August 2017

6

1 reference

Europe PubMed Central

6 August 2017

49

1 reference

Europe PubMed Central

6 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-49

0 references

Emergence of orphan drugs in the United States: a quantitative assessment of the first 25 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Translation of rare disease research into orphan drug development: disease matters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

International registry for primary hyperoxaluria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Enzyme replacement therapy for the mucopolysaccharide storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Enzyme replacement therapy in a mouse model of aspartylglycosaminuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Surrogate end points in clinical trials: are we being misled?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Enzyme replacement therapy for murine mucopolysaccharidosis type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Laboratory detection of aspartylglycosaminuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Primary hyperoxaluria type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

13 July 2018

Quality of life in patients with epidermolysis bullosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Hyperoxaluria is reduced and nephrocalcinosis prevented with an oxalate-degrading enzyme in mice with hyperoxaluria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Enzyme replacement therapy in a murine model of Morquio A syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Enzyme therapy for lysosomal acid lipase deficiency in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Direct correlation between hyperoxaluria/oxalate stone disease and the absence of the gastrointestinal tract-dwelling bacterium Oxalobacter formigenes: possible prevention by gut recolonization or enzyme replacement therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

27 September 2018

Surrogate Endpoints And FDA’s Accelerated Approval Process

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149566

8 December 2018

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary oligosaccharide excretion and severity of galactosialidosis and sialidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Are surrogate markers adequate to assess cardiovascular disease drugs?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

European regulatory perspectives for innovative therapies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21733145

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-6-49

1 reference

Europe PubMed Central

6 August 2017

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1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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