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Titlebook: Human Pathobiochemistry; From Clinical Studie Toshitaka Oohashi,Hirokazu Tsukahara,Fumio Otsuka Textbook 2019 Springer Nature Singapore Pte

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51#
發(fā)表于 2025-3-30 08:25:25 | 只看該作者
52#
發(fā)表于 2025-3-30 15:32:04 | 只看該作者
Nobuaki Miyahara,Kuniaki Seyama,Erwin W. Gelfandeviewers, however, this first novel did not seem like an adventurous beginning but a falling away from the ‘startling originality’ he had shown in his previous work; it meant the exchange of ‘monsters’ and ‘machine’ for ‘sloughs of monotonous mediocrity’ as one reviewer expressed it.. Wells was, as
53#
發(fā)表于 2025-3-30 20:28:37 | 只看該作者
54#
發(fā)表于 2025-3-30 22:18:14 | 只看該作者
Citrin Deficiencyd by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as adult-onset citrullinemia type II (CTLN2). The diagnosis of citrin deficiency is based on characteristic biochemical findings and identification of biallelic
55#
發(fā)表于 2025-3-31 03:29:24 | 只看該作者
Aspartoacylase Deficiency (Canavan Disease, ,-Acetylaspartic Aciduria)al symptoms and MRI-based findings are chronic neurological deterioration with irritability and severe global developmental delay, loss of early milestones, macrocephaly, and seizures together with white matter abnormalities in the brain (“l(fā)eukodystrophy”). CD is biochemically characterized by a def
56#
發(fā)表于 2025-3-31 07:09:59 | 只看該作者
Prominent Insulin Resistance in Congenital Generalized Lipoatrophycient of adipose tissue since birth and developed diabetes and hypertension at the age of 20?years. She began receiving premixed biosynthetic human insulin with a ratio of 30% regular and 70% NPH (neutral protamine Hagedorn) insulin at the age of 27?years. The glycemic control remained poor despite
57#
發(fā)表于 2025-3-31 09:55:06 | 只看該作者
Fabry Diseaseies, and sweats normally. He did not present with chest pains and palpitations and often had diarrhea without abdominal pain. Proteinuria was diagnosed when he was 25?years old, and he was then diagnosed with chronic nephritis. At 30?years of age, he experienced recurrent sudden-onset deafness, some
58#
發(fā)表于 2025-3-31 15:31:53 | 只看該作者
Familial Hypercholesterolemiae low-density lipoprotein (LDL) receptor. FH is autosomal-dominant hereditary disorder and the frequencies of heterozygous and homozygous FH are estimated as 1 in 200-300 and 1 in 160,000-360,000 general populations, respectively. FHs present tendon xanthoma, especially in Achilles tendon, and syste
59#
發(fā)表于 2025-3-31 18:37:16 | 只看該作者
Gaucher Diseaseery was uncomplicated. He developed normally until 3?months of age. However, he manifested stridor and poor feeding at 4?months old and exhibited retroflexion of the neck and strabismus. Feeding problems and difficulty in handling secretion appeared at 6?months old. He manifested tonic-clonic convul
60#
發(fā)表于 2025-3-31 23:08:04 | 只看該作者
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