CRP743
发表于 2025-3-28 15:27:15
Bahar Sateli,Felicitas Löffler,Birgitta König-Ries,René Wittel participation”, “loss of personal identity”, “loss of dreams and future” as well as “lack of health care” and “coping and adjustment”...: In this first study on this theme, we developed a theory about patient’s losses related to mitochondrial disease. They experience a variety of problems in the p
思考
发表于 2025-3-28 21:32:01
Angelo Antonio Salatino,Enrico Mottadisease range, newborn screening for VLCAD deficiency was in the end considered normal. The most important lesson learned is that acylcarnitine profiles from healthy newborns during catabolism and VLCAD-deficient patients can in certain cases not be distinguished by any means. With a known high inci
spondylosis
发表于 2025-3-29 01:25:42
Jason Portenoy,Jevin D. Westwas 746 mg/day (range 370–1,370 mg/day). Median serum Phe was 542 μmol/L (range 146–1,310 mg/day). Fortified protein substitutes supplied the main source of micronutrients. Iron intake was 39.5 mg/day (range 24.6–57 mg/day), exceeding the upper safe intake level. Intake of folate and folic acid, cal
CHECK
发表于 2025-3-29 06:41:05
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极为愤怒
发表于 2025-3-29 10:05:01
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indoctrinate
发表于 2025-3-29 13:28:40
Building Scholarly Data Forestch article/book as the leaves. The books are grouped on the left side of the tree while the articles are grouped on the right side. With final output, every processed author should have a unique tree (preferences of references) and could be compared with the rest of the scientific forest.
微枝末节
发表于 2025-3-29 18:38:17
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共同给与
发表于 2025-3-29 23:01:07
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HOWL
发表于 2025-3-30 01:49:42
., encoding seipin (CGL2; MIM 269700), ., encoding caveolin1 (CGL3; MIM 612526) or ., encoding polymerase I and transcript release factor (CGL4; MIM 613327). This study aims to investigate the genotype/phenotype relationship and search for a possible pathogenic mechanism in a patient with CGL...: Ca
侵略
发表于 2025-3-30 08:00:59
Joakim Philipsoned for further metabolic investigations. We developed and validated a second-tier approach for NBS of homocystinurias by measuring the total homocysteine (tHcy) on the initial dried blood spot (DBS) samples to reduce the need for further investigation, and investigated newborn DBS homocysteine value