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Tamiz Metabólico: Conceptos Clave

Crossword Puzzle

(1)
Played 14

About this activity

Glosario para médicos especialistas

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Mexico

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Tamiz Metabólico: Conceptos Clave
 

Crossword Puzzle

Tamiz Metabólico: Conceptos ClaveOnline version

Glosario para médicos especialistas

by Shadai Chávez López
1

Primera causa prevenible de discapacidad intelectual

2

Causada por deficiencia de PAH, personas con hipopigmentación, alteraciones neurológicas y/o del comportamiento

3

Nombre de la prueba cualitativa de actividad enzimática de GALT

4

Única condición, dentro de las enfermedades identificadas por tamiz (6), con patrón de herencia ligado al cromosoma X.

5

Condición cuya variante genética más frecuente es la ΔF508

6

Tipo de PKU caracterizado por >20mg/dL de fenilalanina en sangre

7

Son manifestaciones clínicas características: pobre succión, cataratas, falla en el crecimiento, vómitos, diarrea, letargia, ATR, hepatomegalia.

8

Además de los cloruros elevados en sudor y la enfermedad pulmonar crónica, forma parte de la triada clásica de fibrosis quística

9

Causa más frecuente de hipotiroidismo primario permanente

10

Enzima más frecuentemente asociada a hiperplasia suprarrenal congénita.

11

Expresión más grave de HSC caracterizada por hipoglucemia, hiponatremia grave, vómitos, ausencia de ganancia ponderal.

12

Característica de la enzimopatía hereditaria más frecuente a nivel mundial

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11
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