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Items: 8

1.

Respiratory failure

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
2.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
3.

Glycogen storage disease, type II

Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon. [from GTR]

MedGen UID:
5340
Concept ID:
C0017921
Disease or Syndrome
4.

Alpha glucosidase

Enzymes that catalyze the exohydrolysis of 1,4-alpha-glucosidic linkages with release of alpha-glucose. Deficiency of alpha-1,4-glucosidase may cause GLYCOGEN STORAGE DISEASE TYPE II. [from MeSH]

MedGen UID:
223
Concept ID:
C0002272
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
5.

Ability to stand

MedGen UID:
645209
Concept ID:
C0560788
Finding
6.

Dependence on wheelchair

MedGen UID:
643195
Concept ID:
C0558195
Finding
7.

Metabolic myopathy

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. [from NCI]

MedGen UID:
452364
Concept ID:
C0270984
Disease or Syndrome
8.

Alglucosidase alfa

MedGen UID:
305583
Concept ID:
C1695579
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
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