(Q53892622)

22 May 2018

title

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. (English)

1 reference

22 May 2018

1 reference

Ness GC

1

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22 May 2018

Lopez D

series ordinal

2

1 reference

22 May 2018

Borrego O

series ordinal

3

1 reference

22 May 2018

Gilbert-Barness E

series ordinal

4

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22 May 2018

publication date

1 January 1997

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22 May 2018

American Journal of Medical Genetics Part A

published in

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22 May 2018

volume

68

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22 May 2018

page(s)

294-299

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22 May 2018

issue

3

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22 May 2018

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Rabbit very low density lipoprotein receptor: a low density lipoprotein receptor-like protein with distinct ligand specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Thyroid hormone rapidly induces hepatic LDL receptor mRNA levels in hypophysectomized rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

Quantification of 7-dehydrocholesterol in plasma and amniotic fluid by liquid chromatography/particle beam-mass spectrometry as a biochemical diagnostic marker for the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C294%3A%3AAID-AJMG9%3E3.0.CO%3B2-M

10.1002/(SICI)1096-8628(19970131)68:3<294::AID-AJMG9>3.0.CO;2-M

21 January 2018

Identifiers

DOI

1 reference

22 May 2018

PubMed ID

9024562

1 reference

22 May 2018