Diagnosis and Care of Infants and Children with Pompe Disease

Andreas Hahn; Julia B Hennermann; Martina Huemer; Christoph Kampmann; Thorsten Marquardt; Eugen Mengel; Wolfgang Müller-Felber; Nicole Maria Muschol; Marianne Rohrbach; Florian Stehling

doi:10.1055/a-1110-7335

Diagnosis and Care of Infants and Children with Pompe Disease

Standard

Diagnosis and Care of Infants and Children with Pompe Disease. / Hahn, Andreas; Hennermann, Julia B; Huemer, Martina; Kampmann, Christoph; Marquardt, Thorsten; Mengel, Eugen; Müller-Felber, Wolfgang; Muschol, Nicole Maria; Rohrbach, Marianne; Stehling, Florian.

In: KLIN PADIATR, Vol. 232, No. 02, 18.02.2020, p. 55-61.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hahn, A, Hennermann, JB, Huemer, M, Kampmann, C, Marquardt, T, Mengel, E, Müller-Felber, W, Muschol, NM, Rohrbach, M & Stehling, F 2020, 'Diagnosis and Care of Infants and Children with Pompe Disease', KLIN PADIATR, vol. 232, no. 02, pp. 55-61. https://doi.org/10.1055/a-1110-7335

APA

Hahn, A., Hennermann, J. B., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., Müller-Felber, W., Muschol, N. M., Rohrbach, M., & Stehling, F. (2020). Diagnosis and Care of Infants and Children with Pompe Disease. KLIN PADIATR, 232(02), 55-61. https://doi.org/10.1055/a-1110-7335

Vancouver

Hahn A, Hennermann JB, Huemer M, Kampmann C, Marquardt T, Mengel E et al. Diagnosis and Care of Infants and Children with Pompe Disease. KLIN PADIATR. 2020 Feb 18;232(02):55-61. https://doi.org/10.1055/a-1110-7335

Bibtex

@article{0d0acd89e8444d0a89daa5fd62f70f6f,

title = "Diagnosis and Care of Infants and Children with Pompe Disease",

abstract = "Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up.",

author = "Andreas Hahn and Hennermann, {Julia B} and Martina Huemer and Christoph Kampmann and Thorsten Marquardt and Eugen Mengel and Wolfgang M{\"u}ller-Felber and Muschol, {Nicole Maria} and Marianne Rohrbach and Florian Stehling",

note = "{\textcopyright} {\textcopyright} Georg Thieme Verlag KG Stuttgart · New York.",

year = "2020",

month = feb,

day = "18",

doi = "10.1055/a-1110-7335",

language = "English",

volume = "232",

pages = "55--61",

journal = "KLIN PADIATR",

issn = "0300-8630",

publisher = "Georg Thieme Verlag KG",

number = "02",

}

RIS

TY - JOUR

T1 - Diagnosis and Care of Infants and Children with Pompe Disease

AU - Hahn, Andreas

AU - Hennermann, Julia B

AU - Huemer, Martina

AU - Kampmann, Christoph

AU - Marquardt, Thorsten

AU - Mengel, Eugen

AU - Müller-Felber, Wolfgang

AU - Muschol, Nicole Maria

AU - Rohrbach, Marianne

AU - Stehling, Florian

PY - 2020/2/18

Y1 - 2020/2/18

N2 - Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up.

AB - Pompe disease is a rare metabolic myopathy caused by deficiency of lysosomal α-glucosidase. Reduced enzyme activity results in abnormal intra- and extralysosomal glycogen deposition as well as impaired cellular function and autophagy. Age at manifestation and severity of disease depend on residual enzyme activity. Enzyme replacement therapy (ERT) is available since 2006. In infantile onset Pompe disease, the most severe form, markedly prolonged survival has resulted in a new phenotype with symptoms and problems not encountered previously. In addition, it became apparent that antibody formation against the recombinant human enzyme may adversely affect the response to ERT. This review summarizes new knowledge gained in the last years concerning care of pediatric patients with Pompe disease and gives recommendations for diagnostics, treatment, and follow-up.

U2 - 10.1055/a-1110-7335

DO - 10.1055/a-1110-7335

M3 - SCORING: Journal article

C2 - 32069498

VL - 232

SP - 55

EP - 61

JO - KLIN PADIATR

JF - KLIN PADIATR

SN - 0300-8630

IS - 02

ER -