Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
about
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disordersNeonatal Gaucher disease presenting as persistent thrombocytopenia.Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate.Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.Activation of membrane NADPH oxidase associated with lysosome-targeted acid sphingomyelinase in coronary endothelial cells.Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.Farber disease: clinical presentation, pathogenesis and a new approach to treatment.Oxidative stress parameters of Gaucher disease type I patients.Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C diseaseShort-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.Enzymatic Screening and Diagnosis of Lysosomal Storage DiseasesAnalysis of protein transport to lysosomes.Home-based infusion therapy for patients with Fabry disease.Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometryLysosomal storage disease: revealing lysosomal function and physiology.Disease registries and outcomes research in children: focus on lysosomal storage disorders.Expanding newborn screening for lysosomal disorders: opportunities and challenges.Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.An improved purification method for the lysosomal storage disease protein β-glucuronidase produced in CHO cells.Lysosomal storage disorders: A review of the musculoskeletal features.Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.The face of lysosomal storage disorders in India: a need for early diagnosis.Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.Unresolving short stature in a possible case of mucopolysccharidosisReceiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.In silico approach to explore the disruption in the molecular mechanism of human hyaluronidase 1 by mutant E268K that directs Natowicz syndrome.Turning the backbone into an ankylosed concrete-like structure: Case report.Enzyme replacement therapy in India: Lessons and insights
P2860
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P2860
Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Lysosomal storage disorders: t ...... nition and comprehensive care.
@ast
Lysosomal storage disorders: t ...... nition and comprehensive care.
@en
type
label
Lysosomal storage disorders: t ...... nition and comprehensive care.
@ast
Lysosomal storage disorders: t ...... nition and comprehensive care.
@en
prefLabel
Lysosomal storage disorders: t ...... nition and comprehensive care.
@ast
Lysosomal storage disorders: t ...... nition and comprehensive care.
@en
P1476
Lysosomal storage disorders: t ...... nition and comprehensive care.
@en
P2093
William R Wilcox
P356
10.1016/J.JPEDS.2004.01.049
P407
P433
P577
2004-05-01T00:00:00Z