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The natural course of non-classic Pompe's disease; a review of 225 published cases

Journal of neurology, 2005-08, Vol.252 (8), p.875-884

2005

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Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Brain (London, England : 1878), 2005-03, Vol.128 (3), p.671-677

2005

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Recombinant human α-glucosidase from rabbit milk in Pompe patients

The Lancet (British edition), 2000-07, Vol.356 (9227), p.397-398

2000

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X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

Annals of neurology, 1993-05, Vol.33 (5), p.535-539

1993

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Follow‐Up of 146 Children with Epilepsy after Withdrawal of Antiepileptic Therapy

Epilepsia (Copenhagen), 1988-05, Vol.29 (3), p.244-250

1988

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Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

Journal of neurology, 1988-09, Vol.235 (7), p.392-396

1988

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Cranial CT in the Sjogren-Larsson syndrome

Neuroradiology, 1987-01, Vol.29 (6), p.560-561

1987

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Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

Clinical genetics, 1984-08, Vol.26 (2), p.139-149

1984

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Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

Developmental medicine and child neurology, 1990-08, Vol.32 (8), p.707-717

1990

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Acquired aphasia with convulsive disorders in children: A case study with a seven-year follow-up

Brain and language, 1978-09, Vol.6 (2), p.141-148

1978

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The natural history of the Guillain-Barré syndrome in 18 children and 50 adults

Journal of neurology, neurosurgery and psychiatry, 1989-07, Vol.52 (7), p.853-856

1989

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Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

Developmental medicine and child neurology, 1990-08, Vol.32 (8), p.707-717

1990

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Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

Journal of the neurological sciences, 1987, Vol.77 (1), p.103-115

1987

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Receptor-mediated uptake of acid α-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle

Pediatric research, 1988-07, Vol.24 (1), p.90-94

1988

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Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients

Experimental cell research, 1984-11, Vol.155 (1), p.178-189

1984

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Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II

Pediatric research, 1990-10, Vol.28 (4), p.344-347

1990

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Characterizing the face in facioscapulohumeral muscular dystrophy

Journal of neurology, 2021-04, Vol.268 (4), p.1342-1350

2021

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Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease)

Clinica chimica acta, 1983-10, Vol.134 (1), p.221-227

1983

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Blind, deaf and mute after a status epilepticus caused by hyperpyrexia from shigellosis--a case report with a four-year follow-up

Neuropediatrics, 1993-12, Vol.24 (6), p.343

1993

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Data-driven inference of unknown tilt and azimuth of distributed PV systems

Solar energy, 2020-11, Vol.211, p.418-432

2020

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Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form

Neuropediatrics, 1985-08, Vol.16 (3), p.137

1985

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Identification of main malaria vectors and their insecticide resistance profile in internally displaced and indigenous communities in Eastern Democratic Republic of the Congo (DRC)

Malaria journal, 2020-11, Vol.19 (1), p.425-425, Article 425

2020

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Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia

Leukemia, 2005-09, Vol.19 (9), p.1536-1542

2005

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Mucin Muc2 deficiency and weaning influences the expression of the innate defense genes Reg3β, Reg3γ and angiogenin-4

PloS one, 2012-06, Vol.7 (6), p.e38798-e38798

2012

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Treatment adherence therapy in people with psychotic disorders: randomised controlled trial

British journal of psychiatry, 2010-12, Vol.197 (6), p.448-455

2010

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The natural course of non-classic Pompe's disease; a review of 225 published cases

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Recombinant human α-glucosidase from rabbit milk in Pompe patients

X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

Follow‐Up of 146 Children with Epilepsy after Withdrawal of Antiepileptic Therapy

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

Cranial CT in the Sjogren-Larsson syndrome

Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient

Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

Acquired aphasia with convulsive disorders in children: A case study with a seven-year follow-up

The natural history of the Guillain-Barré syndrome in 18 children and 50 adults

Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

Receptor-mediated uptake of acid α-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle

Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients

Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II

Characterizing the face in facioscapulohumeral muscular dystrophy

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease)

Blind, deaf and mute after a status epilepticus caused by hyperpyrexia from shigellosis--a case report with a four-year follow-up

Data-driven inference of unknown tilt and azimuth of distributed PV systems

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form

Identification of main malaria vectors and their insecticide resistance profile in internally displaced and indigenous communities in Eastern Democratic Republic of the Congo (DRC)

Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia

Mucin Muc2 deficiency and weaning influences the expression of the innate defense genes Reg3β, Reg3γ and angiogenin-4

Treatment adherence therapy in people with psychotic disorders: randomised controlled trial

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