Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia

Vitamin-D-Dependent Rickets Type II

1978 • 340 citations

A competitive protein-binding assay for 25-hydroxy-cholecalciferol and 25-hydroxyergocalciferol in serum

1974 • 302 citations

DEMONSTRATION OF 1,25-DIHYDROXYVITAMIN D₃RECEPTORS IN HUMAN SKIN BIOPSIES

1980 • 194 citations

Rickets with alopecia: An inborn error of vitaminD metabolism

1979 • 174 citations

Vitamin D is not directly necessary for bone growth and mineralization

1984 • 170 citations

VITAMIN D RESISTANT RICKETS WITH ALOPECIA: CULTURED SKIN FIBROBLASTS EXHIBIT DEFECTIVE CYTOPLASMIC RECEPTORS AND UNRESPONSIVENESS TO 1,25(OH)2D3

1982 • 169 citations

A Cellular Defect in Hereditary Vitamin-D-Dependent Rickets Type II: Defective Nuclear Uptake of 1,25-Dihydroxyvitamin D in Cultured Skin Fibroblasts

1981 • 143 citations

A Familial Syndrome of Decrease in Sensitivity to 1,25-Dihydroxyvitamin D*

1978 • 136 citations

END-ORGAN RESISTANCE TO 1,25-DIHYDROXYCHOLECALCIFEROL

1980 • 132 citations

Bone histomorphometry in vitamin D-deficient rats infused with calcium and phosphorus

1984 • 129 citations

Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.

1983 • 121 citations

1,25-dihydroxyvitamin D resistance, rickets, and alopecia

1984 • 111 citations

Vitamin D Resistance and Alopecia: A Kindred with Normal 1,25-Dihydroxyvitamin D Binding, but Decreased Receptor Affinity for Deoxyribonucleic Acid*

1985 • 108 citations

Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*

1983 • 90 citations

Vitamin D ₃ —Resistant Fibroblasts Have Immunoassayable 1,25-Dihydroxyvitamin D ₃ Receptors

1984 • 87 citations

An Unique Form of Osteomalacia Associated with End Organ Refractoriness to 1,25-Dihydroxyvitamin D and Apparent Defective Synthesis of 25-Hydroxyvitamin D*

1979 • 86 citations

VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D

1981 • 86 citations

An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

1980 • 82 citations

Nuclear uptake of 1,25-dihydroxy[3H]cholecalciferol in dispersed fibroblasts cultured from normal human skin.

1981 • 79 citations

Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.

1983 • 76 citations

STUDIES OF CIRCULATING PARATHYROID HORMONE IN MAN USING A HOMOLOGOUS AMINO-TERMINAL SPECIFIC IMMUNORADIOMETRIC ASSAY

1980 • 73 citations

A dispersed-whole cell method for the determination of androgen receptors in human skin fibroblasts

1980 • 73 citations

RADIOIMMUNOASSAY OF 1,25‐DIHYDROXY VITAMIN D₂: STUDIES ON THE METABOLISM OF VITAMIN D₂ IN MAN

1983 • 67 citations

Vitamin D-resistant rickets: End-organ unresponsiveness to 1,25(OH)2D3

1980 • 45 citations

Vitamin D dependent rickets: Decreased sensitivity to 1,25-dihydroxyvitamin D

1981 • 44 citations

Adult-Onset Vitamin D-Resistant Osteomalacia with the Unresponsiveness to Parathyroid Hormone

1980 • 44 citations

Impaired Stimulation of 25-Hydroxyvitamin D-24-hydroxylase in Fibroblasts from a Patient with Vitamin D-dependent Rickets, Type II

1983 • 30 citations

Resistance to Vitamin D

1984 • 19 citations

A variant form of the 1,25-dihydroxyvitamin D3 receptor with low apparent hormone affinity in cultured monkey kidney cells (LLC-MK2). A model for tissue resistance to vitamin D.

1985 • 18 citations

Vitamin D-dependent rickets type II

1980 • 18 citations

Book ReviewGeneral Surgery

1980 • 7 citations

VITAMIN D DEPENDENT RICKETS TYPE 11 (DD11) WITH ALO PECIA. TREATMENT WITH MEGA DOSES OF 1, 25(OH)2 D3 OVERCOMES AFFINITY DEFECT IN RECEPTOR FOR 1,25(OH)2 D

1984 • 6 citations

[Hereditary pseudovitamin-D-deficiency rickets with alopecia as a consequence of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. Therapeutic progress in another disorder of vitamin-D-metabolism (author's transl)].

1981 • 2 citations