(Q34211173)

31 July 2017

title

Ocular findings in the Hermansky-Pudlak syndrome (English)

1 reference

31 July 2017

Izquierdo NJ

1

1 reference

31 July 2017

Townsend W

series ordinal

2

1 reference

31 July 2017

Hussels IE

series ordinal

3

1 reference

31 July 2017

language of work or name

1 reference

1 January 1995

1 reference

Transactions of the American Ophthalmological Society annual meeting

31 July 2017

published in

1 reference

31 July 2017

volume

93

1 reference

31 July 2017

page(s)

191-200; discussion 200-2

1 reference

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Hermansky-Pudlak syndrome with granulomatous colitis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Studies of platelets in a variant of the Hermansky-Pudlak syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Developmental glaucoma in oculocutaneous albinism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Visual system anomalies in human ocular albinos

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Abnormal visual pathways in human albinos studied with visually evoked potentials

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1312057

Identification of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky-Pudlak syndrome

28 July 2018

1 reference

12 December 2020

A girl with Hermansky-Pudlak syndrome

1 reference

12 December 2020

Correction of the bleeding time in patients with storage pool deficiency by infusion of cryoprecipitate

1 reference

12 December 2020

Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study

1 reference

12 December 2020

The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome

1 reference

12 December 2020

Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)

1 reference

12 December 2020

Hermansky-pudlak syndrome and interstitial lung disease: report of a case with lavage findings

1 reference

12 December 2020

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

12 December 2020

Hermansky-Pudlak syndrome. Ophthalmic findings

1 reference

12 December 2020

Hermansky-Pudlak syndrome (HPS). An epidemiologic study

1 reference

12 December 2020

10.1016/S0002-9394(14)70555-0

Identifiers

DOI

0 references

PMC publication ID

1312057

1 reference

31 July 2017

1 reference