Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. (Record no. 15755197)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02205 a2200745 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515000218.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2005.036673 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Del Fattore, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060616 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Apr 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 315-25 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alkaline Phosphatase |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Resorption |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chloride Channels |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hydrogen-Ion Concentration |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteocalcin |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteoclasts |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteopetrosis |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphoric Monoester Hydrolases |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sodium-Hydrogen Exchangers |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vacuolar Proton-Translocating ATPases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peruzzi, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rucci, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Recchia, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cappariello, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Longo, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fortunati, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ballanti, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iacobini, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Luciani, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devito, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pinto, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caniglia, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lanino, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Messina, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cesaro, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Letizia, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bianchini, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryssira, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grabowski, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bishop, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hughes, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kapur, R P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Datta, H K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taranta, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fornari, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Migliaccio, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teti, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 43 |
| -- | no. 4 |
| -- | p. 315-25 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2005.036673">https://doi.org/10.1136/jmg.2005.036673</a> |
| Public note | Available from publisher's website |
No items available.