Muscle Hypotonia in Lowe’s Syndrome
As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growt...
| 出版年: | Pediatric Neurology Briefs |
|---|---|
| 第一著者: | |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Pediatric Neurology Briefs Publishers
1991-06-01
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| 主題: | |
| オンライン･アクセス: | https://www.pediatricneurologybriefs.com/articles/3188 |
| _version_ | 1850360653726875648 |
|---|---|
| author | J Gordon Millichap |
| author_facet | J Gordon Millichap |
| author_sort | J Gordon Millichap |
| collection | DOAJ |
| container_title | Pediatric Neurology Briefs |
| description | As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growth and renal function. |
| format | Article |
| id | doaj-art-56f00a9ba65d4edabbc987fec70d6784 |
| institution | Directory of Open Access Journals |
| issn | 1043-3155 2166-6482 |
| language | English |
| publishDate | 1991-06-01 |
| publisher | Pediatric Neurology Briefs Publishers |
| record_format | Article |
| spelling | doaj-art-56f00a9ba65d4edabbc987fec70d67842025-08-19T23:05:23ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64821991-06-0156434410.15844/pedneurbriefs-5-6-43174Muscle Hypotonia in Lowe’s SyndromeJ Gordon Millichap0Northwestern University Feinberg School of MedicineAs part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were studied in addition to special reference to growth and renal function.https://www.pediatricneurologybriefs.com/articles/3188oculocerebrorenal syndromemuscle enzymescarnitine metabolism |
| spellingShingle | J Gordon Millichap Muscle Hypotonia in Lowe’s Syndrome oculocerebrorenal syndrome muscle enzymes carnitine metabolism |
| title | Muscle Hypotonia in Lowe’s Syndrome |
| title_full | Muscle Hypotonia in Lowe’s Syndrome |
| title_fullStr | Muscle Hypotonia in Lowe’s Syndrome |
| title_full_unstemmed | Muscle Hypotonia in Lowe’s Syndrome |
| title_short | Muscle Hypotonia in Lowe’s Syndrome |
| title_sort | muscle hypotonia in lowe s syndrome |
| topic | oculocerebrorenal syndrome muscle enzymes carnitine metabolism |
| url | https://www.pediatricneurologybriefs.com/articles/3188 |
| work_keys_str_mv | AT jgordonmillichap musclehypotoniainlowessyndrome |