ライフサイエンスコーパス: Smith-Lemli-Opitz syndrome

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1 evelopmental delay found in individuals with Smith-Lemli-Opitz syndrome.

2 o synthesize cholesterol, such as those with Smith-Lemli-Opitz syndrome.

3 s to the devastating developmental disorder, Smith-Lemli-Opitz syndrome.

4 al inherited metabolic disorders such as the Smith-Lemli-Opitz syndrome.

5 7-dehydrocholesterol (7-DHC), accumulates in Smith-Lemli-Opitz syndrome, a human genetic disease that

6 athogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation

7 the Arabidopsis dwf5 phenotype and the human Smith-Lemli-Opitz syndrome are caused by loss-of-functio

8 derived from 7-DHC that also accumulates in Smith-Lemli-Opitz syndrome, blocked Hedgehog signaling b

9 up of human malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndr

10 olesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic me

11 rocholesterol in the plasma of children with Smith-Lemli-Opitz syndrome imply that intermediates in c

12 The Smith-Lemli-Opitz syndrome is a common inherited birth d

13 ause human malformation syndromes, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterol

14 te the low DHCR7 expression seen with common Smith-Lemli-Opitz syndrome mutations.

15 The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autos

16 Patients with Smith-Lemli-Opitz syndrome (SLOS) are born with multiple

17 ce to an inborn error of metabolism known as Smith-Lemli-Opitz syndrome (SLOS) caused by defective ch

18 Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal-

19 Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome

20 Smith-Lemli-Opitz syndrome (SLOS) is a malformation diso

21 Smith-Lemli-Opitz syndrome (SLOS) is a malformation synd

22 Smith-Lemli-Opitz syndrome (SLOS) is a rare disorder of

23 The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recess

24 Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of

25 Smith-Lemli-Opitz syndrome (SLOS) is caused by defects i

26 e verified in human fibroblasts derived from Smith-Lemli-Opitz syndrome (SLOS) patients and linked to

27 Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and l

28 ydrocholesterol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and select

29 delta7-reductase gene (Dhcr7-/-) results in Smith-Lemli-Opitz syndrome (SLOS).

30 initially was clinically diagnosed as having Smith-Lemli-Opitz syndrome (SLOS).

31 The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syn

32 The Smith-Lemli-Opitz syndrome (SLOS; also known as the RSH

33 erol, a sterol present in elevated levels in Smith-Lemli-Opitz syndrome, were both significantly more

34 st common cholesterol biosynthetic disorder, Smith-Lemli-Opitz syndrome, whose underlying defect was

35 play important roles in the pathogenesis of Smith-Lemli-Opitz syndrome, X-linked dominant chondrodys

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