Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
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The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?Impaired performance of skeletal muscle in alpha-glucosidase knockout miceChinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe diseasePrevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Pompe disease: from pathophysiology to therapy and back againGlycogen storage diseases: new perspectives.Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.Pompe disease diagnosis and management guideline.Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapyConsensus treatment recommendations for late-onset Pompe diseaseEnzyme replacement therapy in late-onset Pompe disease: a systematic literature review.Hypoglossal neuropathology and respiratory activity in pompe miceSurvival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.Burden of illness of Pompe disease in patients only receiving supportive care.Founder mutations among the Dutch.Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupGenetic counseling in Pompe disease.Public support for neonatal screening for Pompe disease, a broad-phenotype condition.Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case ReportDiagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingGlycogen storage disease type II: clinical overview.Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.Lower Urinary Tract Symptoms and Incontinence in Children with Pompe DiseaseAnaesthetic management of two patients with pompe disease for caesarean sectionThe genotype-phenotype correlation in Pompe disease.Muscle biopsy in Pompe disease.Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.Diffuse cerebral microhemorrhages in a patient with adult-onset Pompe's disease: a case report.Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy.Infantile hypotonia with failure to thrive.A 62-year-old man with dyspnea.Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy.Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease.
P2860
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P2860
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Frequency of glycogen storage ...... nosis and genetic counselling.
@ast
Frequency of glycogen storage ...... nosis and genetic counselling.
@en
type
label
Frequency of glycogen storage ...... nosis and genetic counselling.
@ast
Frequency of glycogen storage ...... nosis and genetic counselling.
@en
prefLabel
Frequency of glycogen storage ...... nosis and genetic counselling.
@ast
Frequency of glycogen storage ...... nosis and genetic counselling.
@en
P2093
P356
P1476
Frequency of glycogen storage ...... nosis and genetic counselling.
@en
P2093
Hermans MP
Sandkuijl LA
Verbiest J
van der Ploeg AT
P2888
P304
P356
10.1038/SJ.EJHG.5200367
P577
1999-09-01T00:00:00Z
P5875
P6179
1009263180