• Pompe Disease
    • Ans Tjitske Van Der Ploeg
    • Ans Tjitske Van der Ploeg: Influence Statistics

      Ans Tjitske Van der Ploeg

      Ans Tjitske Van der Ploeg

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      Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, Netherlands | Center for Lysosomal and Metabolic Diseases, Erasmus MC University ...

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      Ans Tjitske Van der Ploeg:Expert Impact

      Concepts for whichAns Tjitske Van der Ploeghas direct influence:Pompe disease,Alglucosidase alfa,Enzyme replacement therapy,Enzyme therapy,Avalglucosidase alfa,Pompe registry,Neonatal screening,Glycogen storage.

      Ans Tjitske Van der Ploeg:KOL impact

      Concepts related to the work of other authors for whichfor which Ans Tjitske Van der Ploeg has influence:Pompe disease,Enzyme replacement therapy,Mucopolysaccharidosis type,Newborn screening,Hunter syndrome,Glycogen storage,Skeletal muscle.

      KOL Resume for Ans Tjitske Van der Ploeg


      Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, Netherlands


      Erasmus MC University Medical Center, Pompe Center Center for Lysosomal and Metabolic Diseases, Rotterdam, Netherlands

      Raymond-Poincaré Hospital, Garches, France


      Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, The Netherlands


      Erasmus Medical University, Rotterdam, Netherlands


      Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, PO Box 2040, 3000, Rotterdam, CA, the Netherlands


      Center for Lysosomal and Metabolic Diseases, Department of Pediatrics Sophia’s Children’s Hospital, Rotterdam, the Netherlands


      Centre for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia, Rotterdam, the Netherlands


      Department of Pediatrics, Rotterdam Erasmus MC University Medical Center, Dr. Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands


      Center for Lysosomal and Metabolic Diseases, Erasmus MC, Rotterdam, The Netherlands

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      Sample of concepts for which Ans Tjitske Van der Ploeg is among the top experts in the world.
      Concept World rank
      crispr cas9 pompe #1
      gaa formation #1
      background pompe #1
      science industrial enterprise #1
      rituximab preschool cross #1
      macrophage infiltration observations #1
      gsdii cultured child #1
      c3213tg haplotypes #1
      variants neuronopathic #1
      131250 #1
      receiving alglucosidase #1
      predicted frequency #1
      adult pompe disease #1
      pompe disease patient #1
      substrate dried #1
      modified crawford technique #1
      asp645asn leu901gln #1
      inefficient arsb splicing #1
      disease progression approval #1
      openlabel study babies #1
      life pompe disease #1
      mutant aalphaglu #1
      pompe patients #1
      future perspectives life #1
      gingival overgrowth patient #1
      mass glc₄ #1
      treatment enzyme dose #1
      diseaseassociated dna variant #1
      gaa exons #1
      aons exon inclusion #1
      life pompe #1
      lamp1 signal #1
      wheelchair ventilator #1
      purposecomparative studies #1
      c3213tg #1
      male muscles polymorphism #1
      young mps patients #1
      assays leukocytes #1
      lateonset pompes disease #1
      glucosidase leads #1
      glycogen 4mug #1
      screen tiling array #1
      immunomodulation cell depletion #1
      standardized supine #1
      40 week patients #1
      adulthood onset phenotypes #1
      snrnabased aons identification #1
      alpha s1casein promoter #1
      model regression analyses #1
      arsb mrna #1
      Sign-in to see all concepts, it's free!

      Prominent publications by Ans Tjitske Van der Ploeg

      KOL-Index: 19913

      OBJECTIVE: Recent reports warn that the worldwide cell culture capacity is insufficient to fulfill the increasing demand for human protein drugs. Production in milk of transgenic animals is an attractive alternative. Kilogram quantities of product per year can be obtained at relatively low costs, even in small animals such as rabbits. We tested the long-term safety and efficacy of recombinant human -glucosidase (rhAGLU) from rabbit milk for the treatment of the lysosomal storage disorder ...

      Known for Pompe Disease | 4 Patients | Recombinant Human | 1 Year | Alpha Glucosidase
      KOL-Index: 14200

      Pompe disease is a rare, autosomal recessive, progressively debilitating, and often fatal neuromuscular disorder. While scoliosis is common in many other neuromuscular disorders, there is little information on its prevalence and impact in Pompe disease. To further our understanding, we performed a cross-sectional analysis of data from the Pompe Registry, a multinational, long-term observational program that contains the largest collection of data in the world of patients with Pompe ...

      Known for Pompe Disease | Patients Scoliosis | Age Onset | Respiratory Function | Type Humans
      KOL-Index: 11193

      Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, symptom onset, degree of organ involvement, and severity. The Pompe Registry represents worldwide ...

      Known for Pompe Registry | Patients Age | Onset Child Child | Muscle Tissue | Broad Spectrum
      KOL-Index: 10947

      OBJECTIVE: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.

      METHODS: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick ...

      Known for Pompe Disease | Enzyme Replacement Therapy | Muscle Strength | Pulmonary Function | Years Treatment
      KOL-Index: 10251

      Allogeneic hematopoietic cell transplantation (HCT) is the only treatment able to prevent progressive neurodegenerative disease in a selected group of mucopolysaccharidosis (MPS) disorders. However, its use was historically limited by the high risk of graft failure and transplantation-related morbidity and mortality. Therefore, since 2005 new international HCT guidelines for MPS disorders were proposed. The survival and graft outcomes of MPS patients receiving HCT according to these ...

      Known for Cell Transplantation | Mps Patients | Hct Female Follow | Unrelated Donor | Chronic Gvhd
      KOL-Index: 10248

      This article presents a new Dutch multicenter study ("PKU-COBESO") into cognitive and behavioral sequelae of early and continuously treated Phenylketonuria (PKU) patients. Part of the study sample will consist of young adult PKU patients who have participated in a large neuropsychological study approximately 10 years ago, when they were 7-to-15-year-olds (Huijbregts et al., 2002 [1]). Their neurocognitive development will be mapped in association with their earlier and continued ...

      Known for Mental Health | Social Functioning | Pku Patients | Cobeso Study | Treated Phenylketonuria
      KOL-Index: 10227

      BACKGROUND: Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha glucosidase (GAA), an enzyme that degrades lysosomal glycogen. Late-onset Pompe's disease is characterized by progressive muscle weakness and loss of respiratory function, leading to early death. We conducted a randomized, placebo-controlled trial of alglucosidase alfa, a recombinant human GAA, for the treatment of late-onset Pompe's disease.

      METHODS: Ninety patients who were 8 years of age or older, ...

      Known for Alglucosidase Alfa | Onset Pompe | 78 Weeks | 6minute Walk Test | Infusionassociated Reactions
      KOL-Index: 10176

      OBJECTIVE: To investigate quality of life in an international population of patients with late-onset Pompe disease.

      METHODS: Data on quality of life (SF-36), age, sex, disease duration, wheelchair use, and use of artificial ventilation were collected for 210 adults with Pompe disease from Australia, Germany, the Netherlands, the United Kingdom, and the United States. SF-36 scores were compared between countries and related to patient characteristics. In addition, for the Dutch subgroup ...

      Known for Quality Life | Physical Health | Pompe Disease | Scores Patients | International Population
      KOL-Index: 10128

      Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential ...

      Known for Speech Disorders | Enzyme Therapy | Muscle Weakness | Infantile Pompe | Dysphagia Patients
      KOL-Index: 10028

      Clinical trials have demonstrated beneficial effects of enzyme replacement therapy (ERT) with alglucosidase alfa in infants, children and adults with Pompe disease. Recent studies have shown that high antibody titers can occur in patients receiving ERT and counteract the effect of treatment. This particularly occurs in those patients with classic-infantile Pompe disease that do not produce any endogenous acid α-glucosidase (CRIM-negative). It is still unclear to what extent antibody ...

      Known for Alglucosidase Alfa | Pompe Disease | Antibody Titer | Antibodies Enzyme | Replacement Therapy
      KOL-Index: 9883

      BACKGROUND: Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile and late-onset Pompe disease, which challenges current screening criteria. Previously, advocacy groups have sometimes supported expanded neonatal screening more than professional experts, while neutral citizens' views were unknown. This ...

      Known for Pompe Disease | Neonatal Screening | Parents Patients | Glycogen Storage | Newborn Male
      KOL-Index: 9874

      Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch ...

      Known for Clinical Manifestation | Age Onset | Fatigue Pain | Child Child | Patients Diagnosis
      KOL-Index: 9801

      BACKGROUND AND AIM: Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and functional amino acids for growth is necessary. Optimal growth will result in improved protein tolerance and possibly a decrease in the number of decompensations. It thus needs to be ...

      Known for Urea Cycle Disorders | Amino Acid | Patients Protein | Mma Pa | Height Score
      KOL-Index: 9740

      BACKGROUND: Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease.

      METHODS: In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually ...

      Known for Pompe Disease | Quality Life | Replacement Therapy | Pulmonary Function | Muscle Strength
      KOL-Index: 9664

      BACKGROUND: Though enzyme-replacement therapy (ERT) with alglucosidase alfa has significantly improved the prospects for patients with classic infantile Pompe disease, some 50 % of treated infants do not survive ventilator-free beyond the age of 3 years. We investigated whether higher and more frequent dosing of alglucosidase alfa improves outcome.

      METHODS: Eight cross-reactive immunological material (CRIM) positive patients were included in the study. All had fully deleterious mutations ...

      Known for Alglucosidase Alfa | Motor Outcome | Higher Dose | 40 Week | Infantile Pompe

      Key People For Pompe Disease

      Top KOLs in the world
      Ans Tjitske Van der Ploeg
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      Priya Sunil Kishnani
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      Arnold J J Reuser
      pompe disease glycogen storage enzyme replacement therapy
      Wuh‐Liang Hwu
      pompe disease newborn screening taiwanese patients
      Marian A Kroos
      pompe disease glycogenosis type glycogen storage
      A J J Reuser
      pompe disease glycogenosis type enzyme therapy

      Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, Netherlands | Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, 3015GE Rotterdam, the Netherlands | Department of Pediatri

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