(Q37895594)

24 August 2017

1 reference

title

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). (English)

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24 August 2017

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9

Michael P Whyte

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24 August 2017

2

William H McAlister

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24 August 2017

8

Steven Mumm

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24 August 2017

Deborah Wenkert

1

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24 August 2017

Stephen P Coburn

3

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24 August 2017

Janice A Zerega

4

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24 August 2017

Lawrence M Ryan

5

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24 August 2017

Karen L Ericson

6

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24 August 2017

Joseph H Hersh

7

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24 August 2017

1 October 2011

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Journal of Bone and Mineral Research

24 August 2017

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24 August 2017

26

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24 August 2017

10

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24 August 2017

2389-2398

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24 August 2017

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Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

21 January 2018

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Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia

21 January 2018

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21 January 2018

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Use of chlorite to improve HPLC detection of pyridoxal 5'-phosphate

21 January 2018

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Analysis of inorganic pyrophosphate at the picomole level

21 January 2018

1 reference

Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

21 January 2018

1 reference

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia

21 January 2018

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Hypophosphatasia; a new developmental anomaly

21 January 2018

1 reference

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

21 January 2018

1 reference

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

21 January 2018

1 reference

Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl

21 January 2018

1 reference

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

21 January 2018

1 reference

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

21 January 2018

1 reference

Ultrasonographic prediction of lethal pulmonary hypoplasia: comparison of eight different ultrasonographic parameters

21 January 2018

1 reference

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

21 January 2018

1 reference

Hypophosphatasia. Review of 24 cases

21 January 2018

1 reference

Serum alkaline phosphatase in hypophosphatasia

21 January 2018

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Neonatal hypophosphatasia with elevated serum parathyroid hormone

21 January 2018

1 reference

Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin.

21 January 2018

1 reference

The phenotype of survivors of campomelic dysplasia

21 January 2018

1 reference

Twins discordant for fetal skeletal abnormalities: a natural confrontation between the two siblings

21 January 2018

1 reference

Congenital malformations in twins: an international study.

21 January 2018

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Reference values for clinical chemistry tests during normal pregnancy

21 January 2018

1 reference

Phenotypically dissimilar hypophosphatasia in two sibships

21 January 2018

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Marrow cell transplantation for infantile hypophosphatasia

21 January 2018

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Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

21 January 2018

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Mammalian Alkaline Phosphatases

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JBMR.454

1 reference

24 August 2017

1 reference