| P50 | author | Ans van der Ploeg | Q88008512 |
| | Arnold J J Reuser | Q92163572 |
| | Marloes L C Hagemans | Q130279254 |
| | Pieter A van Doorn | Q66672518 |
| P2093 | author name string | Léon P F Winkel | |
| | M Christa B Loonen | |
| | Wim J C Hop | |
| P2860 | cites work | Acid maltase deficiency: clinical and laboratory features of adult-onset cases | Q74819582 |
| | Decompensated cor pulmonaleas the first manifestation of adult-onset myopathy | Q77216887 |
| | [Differential diagnosis in anorexia nervosa: glycogenosis II (the Pompe type)] | Q78235695 |
| | Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow | Q79381802 |
| | Identification of two subtypes of infantile acid maltase deficiency | Q22254747 |
| | Glycogenosis type II (acid maltase deficiency) | Q28292738 |
| | Pathological features of glycogen storage disease type II highlighted in the knockout mouse model | Q28586655 |
| | Adult onset acid maltase deficiency associated with epilepsy and dementia: a case report | Q33590875 |
| | Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres | Q33619476 |
| | Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures | Q33622590 |
| | Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients | Q34708762 |
| | The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature | Q35191008 |
| | Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins | Q35248457 |
| | Glycogen storage disease of the heart. II. Critical review of the literature. | Q35654560 |
| | Uncommon case of type II glycogenosis | Q36486106 |
| | The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult | Q36578707 |
| | Glycogenosis type II: The infantile- and late-onset acid maltase deficiency observed in one family | Q39204187 |
| | Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up | Q39218884 |
| | Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study | Q39396054 |
| | Pseudodystrophic muscle glycogenosis in adults. (Acid maltase deficiency syndrome) (author's transl) | Q39400466 |
| | An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis | Q39773347 |
| | Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty | Q40491450 |
| | [Acute respiratory distress in adults disclosing myopathy caused by acid maltase deficiency] | Q70518343 |
| | Adult-onset acid maltase deficiency with prominent bulbar involvement and ptosis | Q70537234 |
| | Adult acid maltase deficiency | Q70738071 |
| | Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy) | Q70871669 |
| | Muscular glycogenosis of myopathic form caused by acid maltase deficiency | Q70874917 |
| | Muscular form of glycogenosis, type II (Pompe) | Q70908110 |
| | Late Infantile Acid Maltase Deficiency | Q70936126 |
| | [A vacuolar myopathy: autophagic glycogenosis of late onset. Ultrastructural study] | Q71059713 |
| | Type II glycogenosis and thyroxine binding globulin deficiency in the same family | Q71423023 |
| | Adult-onset acid maltase deficiency presenting as diaphragmatic paralysis | Q71561502 |
| | A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies | Q71616131 |
| | Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency | Q71640296 |
| | Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype | Q71960076 |
| | High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl) | Q71979814 |
| | Glycogen storage disease in skeletal muscle. Morphological, ultrastructural and biochemical aspects in 10 cases | Q72003972 |
| | Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency | Q72476691 |
| | Acid maltase deficiency: treatment of respiratory insufficiency with cuirass respirator | Q72718115 |
| | A new case of acid maltase deficiency. Treatment by artificial respiration at home | Q72831210 |
| | Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene | Q73036425 |
| | The rigid spine syndrome due to acid maltase deficiency | Q73115222 |
| | Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II | Q73142656 |
| | Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation | Q73172404 |
| | Renal magnesium wasting, hypomagnesemic hypocalcemia, hypocalciuria and osteopenia in a patient with glycogenosis type II | Q73227670 |
| | The adolescent with acute renal failure and left ventricular hypertrophy in the absence of hypertension | Q73300681 |
| | Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy | Q73437316 |
| | The Mount Sinai Hospital clinicalpathological conference: a 45-year-old man with Pompe's disease and dilated cardiomyopathy | Q73928822 |
| | A diagnostic protocol for adult-onset glycogen storage disease type II | Q74608108 |
| | ??? | Q64778808 |
| | Glycogen storage disease (Pompe's disease) presenting as myopathy in the adult (author's transl) | Q40504802 |
| | Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature | Q40531412 |
| | Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk | Q40534571 |
| | Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. | Q40596816 |
| | Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency | Q40865197 |
| | Acid maltase deficiency in adults presenting as respiratory failure | Q40874808 |
| | Biochemical, immunological, and cell genetic studies in glycogenosis type II | Q40896047 |
| | Respiratory insufficiency in adult-type acid maltase deficiency | Q40904400 |
| | Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients | Q40932553 |
| | Adult-onset acid maltase deficiency: A postmortem study | Q41052901 |
| | Infantile and adult-onset acid maltase deficiency occurring in the same family | Q41053423 |
| | Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis | Q41122729 |
| | Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male | Q41598447 |
| | Prevalence and risk of rupture of intracranial aneurysms: a systematic review | Q41691486 |
| | alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). | Q41854457 |
| | Respiratory failure as initial symptom of acid maltase deficiency | Q42582182 |
| | The adult form of acid maltase (alpha-1,4-glucosidase) deficiency | Q43772352 |
| | Late-onset acid maltase deficiency associated with intracranial aneurysm | Q43824669 |
| | Adult myopathy from glycogen storage disease due to acid maltase deficiency | Q44357482 |
| | Myopathy in the adult form of glycogenosis II. Two case reports and review of the literature | Q45105816 |
| | Lymphocyte alpha-glucosidase in late-onset glycogenosis type II. | Q45231404 |
| | A case of primary alveolar hypoventilation associated with mild proximal myopathy | Q45271413 |
| | A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection | Q45733089 |
| | Juvenile-onset acid maltase deficiency with unusual familial features | Q45734414 |
| | Computed tomography and magnetic resonance imaging of affected muscle in childhood acid alpha-glucosidase deficiency: a case report | Q48327520 |
| | Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels | Q48339593 |
| | Acid maltase deficiency in adults. Diagnosis and management in five cases | Q48432674 |
| | Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head | Q48663620 |
| | Sleep-disordered breathing and respiratory failure in acid maltase deficiency | Q48682142 |
| | Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency | Q48906240 |
| | Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report | Q48932484 |
| | Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies | Q48954051 |
| | "Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency. | Q50798175 |
| | Prolonged respiratory depression after anesthesia for parathyroidectomy in a patient with juvenile type of acid maltase deficiency. | Q51559313 |
| | Ureteroscopic removal of left ureteral lithiasis in a patient with acid maltase deficiency disease. | Q51670775 |
| | Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case. | Q54194855 |
| | The spectrum and diagnosis of acid maltase deficiency. | Q54261710 |
| | Adult-onset acid maltase deficiency. Electrophysiological properties of aneurally cultured muscle. | Q54465369 |
| | Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. | Q55034196 |
| | Genotype-phenotype correlation in adult-onset acid maltase deficiency | Q56658805 |
| | [WPW syndrome combined with AV block 2 in an adult with glycogenosis (Type II)] | Q64777163 |
| | Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle. | Q64860281 |
| | Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle | Q66849146 |
| | Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype | Q66858794 |
| | Treatment of acid maltase deficiency with a diet high in branched-chain amino acids | Q67296365 |
| | Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet | Q67562734 |
| | Late-onset acid maltase deficiency in a Chinese girl | Q67895058 |
| | A family with pseudodeficiency of acid alpha-glucosidase | Q68133645 |
| | [Ichthyosiform scaling in alpha-1,4-glucosidase deficiency] | Q68145619 |
| | Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship | Q68217789 |
| | Alpha-glucosidase deficiency in a child | Q68363902 |
| | Acid maltase deficiency of adult life | Q68451056 |
| | [Clinical follow-up in the adult (myopathic) form of glycogenosis type II] | Q68967018 |
| | Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types | Q68992811 |
| | Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl) | Q69042678 |
| | Increased Excretion of a Glucose-Containing Tetrasaccharide in the Urine of a Patient with Glycogen Storage Disease Type II (Pompe's Disease) | Q69062004 |
| | Effects of a high-protein diet in acid maltase deficiency | Q69200591 |
| | Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase | Q69209710 |
| | Respiratory insufficiency in acid maltase deficiency: the effect of high protein diet | Q69221237 |
| | [Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency] | Q69516687 |
| | Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations | Q69869570 |
| | Immunocytochemical analysis of normal and acid maltase-deficient muscle cultures | Q69941983 |
| | Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family | Q69943283 |
| | Adult-onset acid maltase deficiency in siblings | Q69980499 |
| | The pattern of involvement of adult-onset acid maltase deficiency at autopsy | Q70026334 |
| | Acid maltase deficiency in an adult. Evidence for improvement in respiratory function with high-protein dietary therapy | Q70301159 |
| | Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-1986. A 29-year-old woman with slowly progressive proximal-muscle weakness | Q70303397 |
| | Respiratory insufficiency in adult-onset acid maltase deficiency | Q70325134 |
| | Adult form of acid maltase deficiency presenting as progressive spinal muscular atrophy | Q70331662 |
| | [Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase] | Q70386976 |
| | Juvenile acid maltase deficiency presenting as paravertebral pseudotumour | Q70396991 |
| | Improvement of muscle function in acid maltase deficiency by high-protein therapy | Q70424281 |
| | Respiratory improvement by muscle training in adult-onset acid maltase deficiency | Q70435253 |
| | [Mitigated adult forms of acid maltase deficiency (Pompe's disease). Morphologic and pathobiochemical studies] | Q70449191 |
| | The constellation of adult acid maltase deficiency: clinical, electrophysiologic, and morphologic features | Q70458587 |
| | Multiple neutral maltase activities in normal and acid maltase-deficient human muscle | Q70479694 |
| | Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method | Q70517333 |
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 875-884 | |
| P577 | publication date | 2005-08-01 | |
| P1433 | published in | Journal of Neurology | Q6295649 |
| P1476 | title | The natural course of non-classic Pompe's disease; a review of 225 published cases | |
| P478 | volume | 252 | |