[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]
Aten Primaria, 2022 Ejarque Doménech I +7 more
europepmc +1 more source
Type II glycogenosis in a Rottweiler puppy [PDF]
, 2020 Se presentó a la consulta a la FCV un canino macho Rottweiler de 4 meses de edad debido a intolerancia al ejercicio, anormalidad en la marcha y dificultad para incorporarse, de 20 días de evolución.
Amo, Alicia Noemí del +5 more
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Modificación del almidón de maíz y sus efectos en el tratamiento de niños con glucogenosis
, 2022 ABSTRACT: Introduction: Corn starch (CS) is indicated for the management of children with liver glucogenosis (LG). Objective: To describe the clinic outcome in 7 children with LG I and III, from Hospital Pablo Tobón Uribe from Medellín, Colombia, to change food (F) CS by the pharmacological purity (PP) CS.
Yepes Palacio, Nora Luz +3 more
openaire +1 more source
Complications and Disasters After Minimally Invasive Tissue Augmentation with Different Types of Fillers: A Retrospective Analysis. [PDF]
Aesthetic Plast Surg, 2022 Bingoel AS +8 more
europepmc +1 more source
Enfermedades de depósito de glucógeno: informe de dos casos en la ciudad de Cartagena [PDF]
, 2010 Objective: to report two cases of children with type Ia glycogen storage disease compatible with Von Gierke disease, suspected in the presence of findings such as hepatomegaly, nephromegaly, hypoglycemia, and stunted growth. Method: Presentation of the
Alvear Sedán, Ciro César +2 more
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Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies. [PDF]
Int J Mol Sci, 2022 Aguilar-González A +12 more
europepmc +1 more source
Comparación de las escalas de Mallampati y Cormack-Lehane para predecir intubación difícil en pacientes operados de emergencia bajo anestesia general [PDF]
, 2019 Adequate management of the airway is vital in the context of cardiorespiratory complications in general anesthesia. Objective. We compared Mallampati and Cormack-Lehane scores for difficult intubation in emergency surgery patients undergoing general ...
Sierra Parrales, Karen Viviana
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Invasive pneumococcal disease in patients from a pediatric hospital in Peru, 2017-2020. [PDF]
Rev Peru Med Exp Salud Publica, 2022 Marín-Portocarrero JG +3 more
europepmc +1 more source
Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests. [PDF]
Front Neurol, 2021 Nuñez-Peralta C +13 more
europepmc +1 more source
Nódulos Hepáticos en Adolescente con Glucogenosis Tipo Ia
, 2012 La glucogenosis tipo I o Enfermedad de Gierke, es una enfermedad metabólica, hereditaria, por deficiencia de la Glucosa6-Fosfatasa, que ocasiona acumulo anormal de glucógeno en hígado, riñón y mucosa intestinal. Las manifestaciones clínicas: hipoglucemia, hepatomegalia, hiperlactacidemia, hiperlipidemia.
Quintana, Betzabeth +3 more
openaire +1 more source