Lysosomal storage disorders in the newborn. - Wikidata - awgldk - TriplyDB

Lysosomal storage disorders in the newborn.

Lysosomal storage disorders in the newborn.

http://www.wikidata.org/entity/Q37401176

about

Autophagy in lysosomal storage disorders Niemann-Pick disease type C symptomatology: an expert-based clinical description Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.The pleiotropic roles of sphingolipid signaling in autophagy Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Ganglioside biochemistry Toward reducing immunogenicity of enzyme replacement therapy: altering the specificity of human β-glucuronidase to compensate for α-iduronidase deficiency.Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI Spectrum of paediatric lysosomal storage disorders in oman.Role of chitotriosidase (chitinase 1) under normal and disease conditions.Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.Laboratory and genetic evaluation of Gaucher disease.Alpha-mannosidosis: a report of 2 siblings and review of the literature.Lysosomal storage diseases--the horizon expands.Modelling inborn errors of metabolism in zebrafish.Recent advances in gene therapy for lysosomal storage disorders.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Newborn Screening for Lysosomal Storage Disorders.Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Effect of one year of cryopreservation on the activity of lysosomal hydrolases from EBV-transformed lymphocytes.Lysosomal Storage Disorders in Egyptian Children.First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.Circadian profiling in two mouse models of lysosomal storage disorders; Niemann Pick type-C and Sandhoff disease.A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.Scalable syntheses of both enantiomers of DNJNAc and DGJNAc from glucuronolactone: the effect of N-alkylation on hexosaminidase inhibition.Niemann-Pick disease type C in the newborn period: a single-center experience.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.

P2860

Q24601671-59AF168A-60D4-4E6B-8C96-CD27786C6385 Q26860273-290ED6C1-098B-4C46-BE44-A641F689EBAF Q27007539-012DBB6F-566E-46D4-8268-6619F87D4E67 Q30572067-9C1DA617-84B4-4B91-90A4-81D4FDEFA0B9 Q33403714-7B516748-5E67-46C3-99B3-F883C5BF3B94 Q33583826-5388C53D-DE25-4524-A9D6-89F56375DAC3 Q33587948-7C111E7C-5135-475C-8236-3ED6463631B6 Q33624239-5A179876-B7A4-4AE4-A8F9-AA23F885CF58 Q33720239-390ECE48-E6AB-4918-B85A-AD8435B5F452 Q33855124-A423992A-8898-4D9F-A818-607C4EACE036 Q35007910-5A3D8002-B70E-43F8-B03F-3A9E8546F87F Q35361488-22F8B448-EB05-4143-ABE8-613C508D785A Q35759492-D60A32D6-C686-466D-80BF-3CD4EC6B339E Q36009130-3B057D6E-1C27-4B54-AB7D-88775C8D289E Q36146549-49D39842-9AD8-4E13-BA17-90574473F348 Q36630259-2D41ED8A-E315-4687-8253-60EC3E13006F Q37127624-BB2248CA-E168-4003-A615-629F80C7DFAC Q37434195-90E2A04D-23D6-47F3-BF09-3E6D6FB34714 Q37500629-D7A15455-C753-4AD2-BAA8-D61FF6F11D0D Q37780488-4892B0D2-3255-4FF8-81FB-438035958E96 Q38073238-A4383DF4-79B5-4A9A-828D-498414DDDB58 Q38128478-F069B6DD-30EE-44E2-A9BE-0889AC9E74AA Q38209473-0D608BA7-4B1E-4E5E-A589-AD2651C96BF4 Q38546492-64A544CC-A5D0-4EF2-84F5-DA3712564D5F Q38652950-C431C816-D65D-4B52-8C3C-7203BFBE0EF3 Q38737126-A03080FC-7C15-4032-B6CE-28AE2F6DC43B Q38815366-FA876251-3117-457C-BF31-35F28D91A334 Q39127503-959372B6-BCEC-4B03-B3AE-C4C89ECDFE07 Q39499484-F18A961A-C7C9-4FAD-8F58-B8C1AC87103D Q39527287-2DD736C0-414B-4B07-A0D3-7CFC627826FD Q40037225-164C55AE-22A3-42B5-8A9C-B94C40A3E95A Q41101251-919948B2-A7AD-41A2-8F2D-F4916B8B3D4F Q41619191-2C475660-9446-4983-B0DF-1DCBF0E3A5A0 Q41838423-189BA058-0B16-4801-8831-9B20124F1632 Q42226747-2F1B5D1B-0155-4BD7-BB0F-91FB625F5910 Q46033328-D0820039-C04F-4E0A-8A16-FA417A5FDBE6 Q47448991-EE6ED9A5-9A37-4975-8A65-EBF574BB463A Q47761092-84BC166A-D468-4D78-A057-7BCA8C3EF745 Q50014672-6500CC12-AADA-4A38-B032-79FA9D3D188B Q50210345-F4F69BCB-CD36-4D94-A614-E437A4F11020

P2860

Lysosomal storage disorders in the newborn.

http://www.wikidata.org/entity/Q37401176

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on April 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Lysosomal storage disorders in the newborn.

@en

Lysosomal storage disorders in the newborn.

@nl

type

label

Lysosomal storage disorders in the newborn.

@en

Lysosomal storage disorders in the newborn.

@nl

prefLabel

Lysosomal storage disorders in the newborn.

@en

Lysosomal storage disorders in the newborn.

@nl

P1433

Q37401176-4FD1B388-D7AB-4A51-8DA4-9C1083C3C6AE

P1476

Q37401176-D780B2DA-6E5E-473A-BCD3-89B3A6D451D7

P2093

Q37401176-0FFB25E6-DD25-4272-8F1D-E23EADE54FFD

Q37401176-16C22C27-1C19-4CE2-8781-7D4760894B9C

Q37401176-206D6053-05FA-4239-AB83-FAEA859B1782

Q37401176-22FA7D96-7E3A-4151-BB81-B5FBB709626D

Q37401176-AA306745-41C2-4B99-B20C-135D68D43084

P2860

Q37401176-039C7214-C66B-4B50-94FE-5CC9239A1046

Q37401176-0780DF71-2401-4099-A1F2-4503630C1F59

Q37401176-0B1FFEB2-7F61-41BA-847D-77623E295952

Q37401176-0CEAF7D5-82A3-4798-BADA-920B49B034E0

Q37401176-0E16148B-6899-4D92-B058-97FE7ECE77ED

Q37401176-0F4765AA-793B-48B6-A248-E7EFE68B228A

Q37401176-1019C180-7CC1-4F0C-A7B8-A9D2DEDBAF14

Q37401176-144020E2-889B-42E9-95B5-F489B80321DF

Q37401176-14BD35B3-32B5-4DF1-B60F-62645B96F059

Q37401176-158FA17F-2DE8-49ED-8778-9700E523E591

P304

Q37401176-BF8AE63D-0B6C-4478-8747-43AD41EAA4C3

P31

Q37401176-FAD51CD6-08AE-4A20-89B4-820E61A220D0

P356

Q37401176-067CF827-3E2C-4BB4-83BB-D3524BA7C650

P407

Q37401176-CD72588D-DDCE-46F3-9CC6-A5B4EBAD044A

P433

Q37401176-C90DA726-8C89-4C7C-84BB-8F6889D2EB52

P478

Q37401176-35EF0A59-0785-40E6-82A2-FCE13BBF56A7

P577

Q37401176-99A034B0-107C-42D1-992A-4EAC4FD81CE6

P5875

Q37401176-CF17D8F8-C7CE-420D-97CC-352AF1905F9C

P698

Q37401176-B1F1E4A1-9A40-4DBA-AA52-0CB5F641BF99

P932

Q37401176-B2FB33BE-056C-4673-A744-03186F9E99EA

P356

P1433

P1476

Lysosomal storage disorders in the newborn.

@en

P2093

Donna Krasnewich

http://www.w3.org/2001/XMLSchema#string

Ellen Sidransky

http://www.w3.org/2001/XMLSchema#string

Mary E LaMarca

http://www.w3.org/2001/XMLSchema#string

Orna Staretz-Chacham

http://www.w3.org/2001/XMLSchema#string

Tess C Lang

http://www.w3.org/2001/XMLSchema#string

P2860

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

Clinical spectrum of infantile free sialic acid storage disease

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred

Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

P304

1191-1207

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1542/PEDS.2008-0635

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

123

http://www.w3.org/2001/XMLSchema#string

P577

2009-04-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

24248241

http://www.w3.org/2001/XMLSchema#string

P698

19336380

http://www.w3.org/2001/XMLSchema#string

P932

2768319

http://www.w3.org/2001/XMLSchema#string