[HTML][HTML] Case Report Chinese Boy with Normal Initial Peroxisomal Blood Assays: A Diagnostic Pitfall in the Workup for Infantile Refsum Disease

KL Cheung, CH Ko, HHC Lee, CM Mak - HK J Paediatr (new series), 2019 - hkjpaed.org
… ), one of less severe form of peroxisome biogenesis disorders, is … and there was no known
family history of genetic diseases. … Van der Knapp et al retrospectively reviewed the pattern of …

[HTML][HTML] Case Report Combination of Hyperammonaemia and Tachyarrhythmia in a Newborn with Carnitine-acylcarnitine Translocase Deficiency

J Hui, KF To, NLS Tang, HC Yau, ELK Law… - HK J Paediatr (New …, 2010 - hkjpaed.org
… Parents were non consanguineous and family history was … Carnitine studies showed a low
serum free carnitine … varies greatly and diagnosis is usually retrospective. Severe ventricular …

Monogenic diabetes: Implementation of translational genomic research towards precision medicine: 单基因糖尿病: 应用翻译基因组研究朝精准医疗迈进

M Vaxillaire, P Froguel - Journal of Diabetes, 2016 - Wiley Online Library
… Importantly, a retrospective cohort study using data from 58 … lack of a family history of diabetes
in some clinically defined … clinical significance, as well as variants of incidental findings, …

[HTML][HTML] 放Identification of serum biomarkers to predict pemetrexed/platinum chemotherapy efficacy for advanced lung adenocarcinoma patients by data-independent …

…, X Yang, H Chen, J Wang, X Zhai, S Li… - … lung cancer research, 2021 - ncbi.nlm.nih.gov
… Some retrospective studies showed that advanced lung … databases were used to analyze the
protein family and pathway. The … The KEGG pathway annotation of total proteins is shown in …

[HTML][HTML] Immunology & Infectious Diseases Forum Haematopoietic Stem Cell Transplant for Wiskott-Aldrich Syndrome 造血幹細胞移植治療Wiskott-Aldrich 綜合徵

BHY Chung, TL Lee, CF Chan, A Chiang… - HK J Paediatr (new …, 2006 - hkjpaed.org
… We reviewed retrospectively 7 Chinese children diagnosed … Thus summarising our data,
classical clinical features (±family … HLA-matched and disease-free sibling is quite low. Thus, with …

高同型半胱氨酸伴血脂异常对脑卒中发生的协同作用

…, L Wang, C Fu, X Xu, Z Cheng, Q Wu, S Li - 中国神经再生研究 …, 2013 - sjzsyj.com.cn
… The present study is a retrospective analysis of 2 089 cases of … Surprisingly, we found no
correlation between family or patient … Clinical significance: This study investigated the impact of …

[HTML][HTML] Pitfalls in the Management of Phenylketonuria in China 中國苯丙酮尿症治療管理中的誤區

HQ lL Yang, WF Zhang, ZY Zhao, RL Yang… - HK J Paediatr (New …, 2012 - hkjpaed.org
… -year retrospective study … is a major problem. Treatment refusal rarely occurred after our
centre applied a PKU funding for supporting the family from low social and economical level

[HTML][HTML] Recent Advances in Childhood Atopic Dermatitis 關於兒童異位性皮炎的新進展

CK Yeung, HHL Chan - HK J Paediatr (new series), 2007 - hkjpaed.org
… sometimes results in significant morbidity, disruption of familylevels generally remain low
and have shown to decrease … were reported in another retrospective study that examined …

深入研究脊髓损伤管理的最新进展: 近期进展回顾

JA Flack, KD Sharma, JY Xie - 中国神经再生研究(英文版), 2022 - sjzsyj.com.cn
protein family consists of 22 GTPases responsible for the regulation of actin dynamics to control
cell shape and motility. Signal transduction for Rho proteins is … called retrospective target …

[HTML][HTML] Case Report Haemophagocytic Lymphohistiocytosis in an Infant: Important Aspects in Management 嬰兒嗜血細胞性淋巴組織細胞增生症1 例: 管理的重要性

WH Hui, DKK Ng, KL Kwok, YY Lam - HK J Paediatr (New Series), 2007 - hkjpaed.org
… In two retrospective studies on HLH, only around 1 in 4 patients underwent lumbar puncture…
Molecular study is indicated if the NK cell function is persistently low or when there is family