[Clinical guidelines for infantile-onset Pompe disease].
Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.
Hospital Universitario Materno Infantil La Paz, Madrid, Espana.
S I
SI
Pascual-Pascual
Hospital Universitari Sant Joan de Deu, Esplugues de Llobregat, Espana.
A
A
Nascimento
Hospital General Universitario Gregorio Maranon, Madrid, Espana.
C M
CM
Fernandez-Llamazares
Hospital General Universitario Gregorio Maranon, Madrid, Espana.
C
C
Medrano-Lopez
Hospital Infantil Universitario Nino Jesus, 28009 Madrid, Espana.
E
E
Villalobos-Pinto
Hospital Universitario Materno Infantil La Paz, Madrid, Espana.
M
M
Martinez-Moreno
Hospital Universitario Puerta del Mar, 11009 Cadiz, Espana.
M
M
Ley
Hospital General Universitario Gregorio Maranon, Madrid, Espana.
S
S
Manrique-Rodriguez
Hospital Regional Universitario de Malaga, Malaga, Espana.
J
J
Blasco-Alonso
D017668:Age of Onset; D056947:Enzyme Replacement Therapy; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D007223:Infant