Displaying publications 261 - 280 of 485 in total

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  1. Fulltext Functioning adrenal adenoma in association with congenital adrenal hyperplasia
    Rohana AG, Ming W, Norlela S, Norazmi MK
    Med J Malaysia, 2007 Jun;62(2):158-9.
    PMID: 18705452 MyJurnal
    We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with persistent hyperkalaemia and asymptomatic hyponatraemia. Further investigations strongly suggested the presence of isolated mineralocorticoid deficiency with normal cortisol levels. This was confirmed to be due to partial or late-onset congenital adrenal hyperplasia (CAH). We discuss the association of partial CAH and adrenal tumours and the unmasking of the mineralocorticoid deficiency following adrenalectomy.
    Matched MeSH terms: Mineralocorticoids/deficiency
  2. Fulltext Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency
    Ngu LH, Zabedah MY, Shanti B, Teh SH
    Malays J Pathol, 2008 Dec;30(2):109-14.
    PMID: 19291920 MyJurnal
    We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
    Matched MeSH terms: Acetyl-CoA C-Acyltransferase/deficiency*
  3. Fulltext Giardiasis and poor vitamin A status among aboriginal school children in rural Malaysia
    Al-Mekhlafi HM, Surin J, Sallam AA, Abdullah AW, Mahdy MA
    Am J Trop Med Hyg, 2010 Sep;83(3):523-7.
    PMID: 20810815 DOI: 10.4269/ajtmh.2010.09-0371
    A cross-sectional study was carried out on 241 primary schoolchildren in Pahang, Malaysia to update their vitamin A status and to investigate the association of poor vitamin A status with their health and socioeconomic factors. All children were screened for intestinal parasitic infections. Blood samples were collected and vitamin A status was assessed. Socioeconomic data were collected by using pre-tested questionnaires. The results showed that 66 (27.4%) children had low serum retinol levels (< 0.70 micromol/L). Giardiasis and severe ascariasis were significantly associated with low serum retinol levels (P = 0.004 and P = 0.018, respectively). Logistic regression confirmed the significant association of giardiasis with low serum retinol (odds ratio = 2.7, 95% confidence interval = 1.3-5.5). In conclusion, vitamin A deficiency is still a public health problem in rural Malaysia. Vitamin A supplementation and treatment of intestinal parasitic infections should be distributed periodically to these children to improve their health and nutritional status.
    Matched MeSH terms: Vitamin A Deficiency/epidemiology*
  4. Fulltext G6PD enzyme activity in normal term Malaysian neonates and adults using a OSMMR2000-D kit with Hb normalization
    Azma RZ, Hidayati N, Farisah NR, Hamidah NH, Ainoon O
    Southeast Asian J Trop Med Public Health, 2010 Jul;41(4):982-8.
    PMID: 21073074
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the commonest causes of neonatal jaundice in Malaysia. Screening of cord blood for G6PD deficiency by the semiquantitative fluorescent spot test (FST) is performed in Malaysia but this test can miss cases of partial G6PD deficiency. The OSMMR-D kit assay measures G6PD activity and hemoglobin (Hb) concentration, allowing direct expression of results in U/gHb. We evaluated this method and established the normal range for G6PD activity in normal term neonates and adults. EDTA blood from 94 neonates and 295 adults (age 15-59 years old) with normal Hb and FST were selected. The normal means for G6PD activity for neonates and adults were 12.43 +/- 2.28 U/gHb and 9.21 +/- 2.6 U/gHb, respectively; the reference ranges for normal G6PD activity in neonates and adults were 10.15-14.71 U/gHb and 6.61-11.81 U/gHb respectively. There were no significant differences in mean normal G6PD activity between the Malays and Chinese racial groups or between genders. The upper and lower limit cut-off points for partial deficiency in neonates were 7.4 U/gHb (60% of the normal mean) and 2.5 U/gHb (20% of the normal mean), respectively. For adults, the upper and lower limit cut-off points for partial deficiency in adults were 5.52 U/gHb (60% of the normal mean) and 1.84 U/gHb (20% of the normal mean), respectively. The quantitation of G6PD enzymes using this OSMMR-D kit with Hb normalization was simple since the Hb was analyzed simultaneously and the results were reproducible with a CV of less than 5%.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*
  5. Fulltext Serum soluble transferrin receptor in hypochromic microcytic anaemia
    Jayaranee S, Sthaneshwar P
    Singapore Med J, 2006 Feb;47(2):138-42.
    PMID: 16435056
    The objective of this study was to assess the clinical significance of soluble transferrin receptor (sTfR) in hypochromic microcytic anaemia.
    Matched MeSH terms: Anemia, Iron-Deficiency/diagnosis*
  6. Fulltext Prevalence of thiamine deficiency at a drug rehabilitation centre in Malaysia
    Fozi K, Azmi H, Kamariah H, Azwa MS
    Med J Malaysia, 2006 Dec;61(5):519-25.
    PMID: 17623950 MyJurnal
    A possible outbreak of beriberi occurred at a drug detention and rehabilitation centre, Pusat Serenti Bukit Cabang, Perlis, Malaysia in February 2004. This outbreak was identified following the presentation of a large number of inmates at a health centre with signs and symptoms of ankle oedema and shortness of breath. Further investigations revealed the death of three inmates at the General Hospital with similar clinical presentations during the period from October 2003 till February 2004. A cross sectional comparative study was carried out at the rehabilitation centre to find out the prevalence of thiamine deficiency among the inmates both symptomatic and asymptomatic. A total of 154 inmates were examined (57 symptomatic and 97 asymptomatic cases). It was found that 74% from the sample study (114 cases) had thiamine deficiency (44 symptomatic and 70 asymptomatic). Further statistical analysis showed that ankle oedema is consistent with the diagnosis of thiamine deficiency but lack sensitivity (p < 0.05, sensitivity 24.6%, specificity 95%). This outbreak could have been triggered by poor diet intake of thiamine by the inmates coupled with possible intake of certain thiamine antagonists in their diet.
    Matched MeSH terms: Thiamine Deficiency/epidemiology*
  7. Fulltext Hypolactasia & lactose intolerance among three ethnic groups in Malaysia
    Asmawi MZ, Seppo L, Vapaatalo H, Korpela R
    Indian J Med Res, 2006 Dec;124(6):697-704.
    PMID: 17287558
    Prevalence of adult-type hypolactasia is known to vary among different countries and in different ethnic populations in the same country. The present study was undertaken to evaluate the prevalence of hypolactasia and lactose intolerance in three different ethnic populations living in similar environmental conditions in Malaysia. The correlation between different symptoms and lactose intolerance test was also studied.
    Matched MeSH terms: Lactase/deficiency*
  8. Fulltext Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries
    Matsuo M, Nishiyama K, Shirakawa T, Padilla CD, San LP, Suryantoro P, et al.
    Southeast Asian J Trop Med Public Health, 2003;34 Suppl 3:127-9.
    PMID: 15906715
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/genetics*
  9. Fulltext A young woman with hypogonadism, hypertension and hypokalaemia
    Toh VK, Yung CH
    Med J Malaysia, 2009 Sep;64(3):242-3.
    PMID: 20527279 MyJurnal
    We report a case of a 16 years old girl who presented sequentially with primary amenorrhoea, hypertension and hypokalaemia. Eight years later, she was finally diagnosed with 17alpha-hydroxylase deficiency congenital adrenal hyperplasia. Previous antihypertensive medications were stopped. Hydrocortisone alone successfully maintained normotension and normokalaemia.
    Matched MeSH terms: Steroid Hydroxylases/deficiency*
  10. Repeat endoscopy for recurrent iron deficiency anemia: an (un)expected finding from southeast Asia
    Mahadeva S, Qua CS, Yusoff W, Sulaiman W
    Dig Dis Sci, 2007 Feb;52(2):523-5.
    PMID: 17219070
    Matched MeSH terms: Anemia, Iron-Deficiency/parasitology*
  11. Associations between Aging and Vitamin D Status with Whole-Body Nitric Oxide Production and Markers of Endothelial Function
    Siervo M, Hussin AM, Calella P, Ashor A, Shannon OM, Mendes I, et al.
    J Nutr, 2024 Feb;154(2):469-478.
    PMID: 38048992 DOI: 10.1016/j.tjnut.2023.12.002
    BACKGROUND: Aging and vitamin D deficiency have been associated with reduced nitric oxide (NO) synthesis and impaired endothelial function (EF) but the evidence in humans remains weak.

    OBJECTIVES: Two independent cross-sectional studies were designed to evaluate the association between age, sex, and plasma vitamin D concentrations with physiological and biochemical biomarkers of NO synthesis and EF in young and older healthy participants (Study 1) and in overweight and obese postmenopausal females (Study 2).

    METHODS: In Study 1, 40 young (20-49 y) and older (50-75 y) males and females (10 participants per age and sex group) were included. Resting blood pressure and ear-to-finger peripheral pulse wave velocity (PWV) were measured. A stable-isotopic method was used to determine whole-body NO production. Plasma 25-hydroxyvitamin D (25(OH)D), nitrate, nitrite, and asymmetric dimethylarginine (ADMA) concentrations were determined. In Study 2, 80 older overweight and obese females (age 61.2 ± 6.2 y, body mass index 29.5 ± 4.4 kg/m2) were recruited. Postocclusion reactive hyperemia (PORH) and peripheral PWV were measured. Plasma concentrations of 25(OH)D, nitrate, cyclic guanosine monophosphate, 3-nitrotyrosine (3-NT), endothelin-1, vascular endothelial growth factor, and ADMA were determined.

    RESULTS: In Study 1, whole-body NO production was significantly greater in young compared with older participants (0.61 ± 0.30 μmol·h-1·kg-1 compared with 0.39 ± 0.10 μmol·h-1·kg-1, P = 0.01) but there was no evidence of a sex difference (P = 0.81). Plasma 25(OH)D concentration was not associated with PWV (r = 0.18, P = 0.28) or whole-body NO production (r = -0.20, P = 0.22). Plasma ADMA concentration was associated positively with age (r = 0.35, P = 0.03) and negatively with whole-body NO production (r = -0.33, P = 0.04). In Study 2, age was associated with lower PORH (r = -0.28, P = 0.02) and greater ADMA concentrations (r = 0.22, P = 0.04). Plasma 25(OH)D concentration was inversely associated with 3-NT concentrations (r = -0.31, P = 0.004).

    CONCLUSIONS: Older age was associated with lower whole-body NO production. Plasma vitamin D concentrations were not associated with NO production or markers of EF but showed a weak, significant correlation with oxidative stress in postmenopausal overweight females.

    Matched MeSH terms: Vitamin D Deficiency*
  12. Inflammation and L-carnitine therapy in hemodialysis patients: a review
    Khalatbari-Soltani S, Tabibi H
    Clin Exp Nephrol, 2015 Jun;19(3):331-5.
    PMID: 25446285 DOI: 10.1007/s10157-014-1061-3
    Inflammation is a common complication in hemodialysis (HD) patients with no valid treatment strategy. In addition, carnitine deficiency occurs frequently in HD patients because of intradialytic loss of carnitine, impaired de novo carnitine renal synthesis, and reduced dietary intake. It appears that carnitine deficiency is related to inflammation in HD patients. A few clinical trials have investigated the effect of L-carnitine supplement on inflammatory markers in HD patients. All studies in this field, except one, showed that L-carnitine could significantly reduce C-reactive protein and serum amyloid A, as two systemic inflammation markers, in HD patients. Therefore, considering high prevalence of inflammation and carnitine deficiency in HD patients, L-carnitine therapy is a reasonable approach for reducing systemic inflammation and its complications in these patients.
    Matched MeSH terms: Carnitine/deficiency*
  13. Fulltext Autoimmune polyglandular syndrome presenting with jaundice and thrombocytopenia
    Norasyikin AW, Rozita M, Mohd Johan MJ, Suehazlyn Z
    Med Princ Pract, 2014;23(4):387-9.
    PMID: 24401542 DOI: 10.1159/000357645
    OBJECTIVE: To report an uncommon presentation of a rare case of autoimmune polyglandular syndrome type IIIb in an elderly woman.
    CLINICAL PRESENTATION AND INTERVENTION: A 62-year-old woman presented with anaemic symptoms and jaundice. Blood tests showed macrocytic anaemia due to vitamin B12 deficiency with Coombs negative haemolysis. A thyroid function test was consistent with hypothyroidism. Autoimmune antibody assays were positive for anti-parietal cell, anti-intrinsic factor and anti-thyroid peroxidase antibodies. A final diagnosis of autoimmune thyroiditis with pernicious anaemia, which constituted autoimmune polyglandular syndrome type IIIb, was made and the patient was treated with L-thyroxine, vitamin B12 injection and a blood transfusion. She was discharged uneventfully after a week of hospitalization.
    CONCLUSION: This case showed that the presence of one autoimmune endocrine disease should prompt clinicians to look for other coexisting autoimmune diseases which may be asymptomatic despite positive autoantibodies.
    Matched MeSH terms: Vitamin B 12 Deficiency/physiopathology
  14. Fulltext Rapid resolution liquid chromatography method development and validation for simultaneous determination of homocysteine, vitamins B(6), B(9), and B(12) in human serum
    Shaik MM, Gan SH
    Indian J Pharmacol, 2013 Mar-Apr;45(2):159-67.
    PMID: 23716893 DOI: 10.4103/0253-7613.108303
    Hyperhomocysteinemia and vitamins B(6), B(9), and B(12) deficiencies usually result in various neurological, vascular, ocular, renal, and pulmonary abnormalities. However, to date, there are no simultaneous detection methods available for determining homocysteine, vitamins B(6), B(9), and B(12) levels in various biological fluids. In this study, we aim to develop a new validated simultaneous detection method for all four compounds to save both cost and time of analysis.
    Matched MeSH terms: Vitamin B Deficiency/diagnosis
  15. Fulltext Human IFNAR2 deficiency: Lessons for antiviral immunity
    Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, et al.
    Sci Transl Med, 2015 Sep 30;7(307):307ra154.
    PMID: 26424569 DOI: 10.1126/scitranslmed.aac4227
    Type I interferon (IFN-α/β) is a fundamental antiviral defense mechanism. Mouse models have been pivotal to understanding the role of IFN-α/β in immunity, although validation of these findings in humans has been limited. We investigated a previously healthy child with fatal encephalitis after inoculation of the live attenuated measles, mumps, and rubella (MMR) vaccine. By targeted resequencing, we identified a homozygous mutation in the high-affinity IFN-α/β receptor (IFNAR2) in the proband, as well as a newborn sibling, that rendered cells unresponsive to IFN-α/β. Reconstitution of the proband's cells with wild-type IFNAR2 restored IFN-α/β responsiveness and control of IFN-attenuated viruses. Despite the severe outcome of systemic live vaccine challenge, the proband had previously shown no evidence of heightened susceptibility to respiratory viral pathogens. The phenotype of IFNAR2 deficiency, together with similar findings in STAT2-deficient patients, supports an essential but narrow role for IFN-α/β in human antiviral immunity.
    Matched MeSH terms: Receptor, Interferon alpha-beta/deficiency*
  16. Fulltext The challenges of introducing routine G6PD testing into radical cure: a workshop report
    Ley B, Luter N, Espino FE, Devine A, Kalnoky M, Lubell Y, et al.
    Malar J, 2015 Sep 29;14:377.
    PMID: 26416229 DOI: 10.1186/s12936-015-0896-8
    The only currently available drug that effectively removes malaria hypnozoites from the human host is primaquine. The use of 8-aminoquinolines is hampered by haemolytic side effects in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals. Recently a number of qualitative and a quantitative rapid diagnostic test (RDT) format have been developed that provide an alternative to the current standard G6PD activity assays. The WHO has recently recommended routine testing of G6PD status prior to primaquine radical cure whenever possible. A workshop was held in the Philippines in early 2015 to discuss key challenges and knowledge gaps that hinder the introduction of routine G6PD testing. Two point-of-care (PoC) test formats for the measurement of G6PD activity are currently available: qualitative tests comparable to malaria RDT as well as biosensors that provide a quantitative reading. Qualitative G6PD PoC tests provide a binomial test result, are easy to use and some products are comparable in price to the widely used fluorescent spot test. Qualitative test results can accurately classify hemizygous males, heterozygous females, but may misclassify females with intermediate G6PD activity. Biosensors provide a more complex quantitative readout and are better suited to identify heterozygous females. While associated with higher costs per sample tested biosensors have the potential for broader use in other scenarios where knowledge of G6PD activity is relevant as well. The introduction of routine G6PD testing is associated with additional costs on top of routine treatment that will vary by setting and will need to be assessed prior to test introduction. Reliable G6PD PoC tests have the potential to play an essential role in future malaria elimination programmes, however require an improved understanding on how to best integrate routine G6PD testing into different health settings.
    Matched MeSH terms: Glucosephosphate Dehydrogenase Deficiency/diagnosis*
  17. Fulltext Combined immunodeficiency in a patient with c-Rel deficiency
    Beaussant-Cohen S, Jaber F, Massaad MJ, Weeks S, Jones J, Alosaimi MF, et al.
    J Allergy Clin Immunol, 2019 Aug;144(2):606-608.e4.
    PMID: 31103457 DOI: 10.1016/j.jaci.2019.05.003
    This study reports a homozygous mutation in REL abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to Mycobacterium tuberculosis, Salmonella, Cryptosporidium, and cytomegalovirus.
    Matched MeSH terms: Severe Combined Immunodeficiency/genetics; Severe Combined Immunodeficiency/immunology*; Proto-Oncogene Proteins c-rel/deficiency*
  18. Fulltext Effect of vitamin D3-fortified fruit juice supplementation of 4000 IU daily on the recovery of iron status in childbearing-aged women with marginally low iron stores: Protocol for an 8-week, parallel group, double-blind randomized controlled trial
    Ahmad Fuzi SF, Su Peng L, Zabaha Zalbahar N, Ab Manan N, Mohamad Alwi MN
    PLoS One, 2022;17(3):e0265772.
    PMID: 35333885 DOI: 10.1371/journal.pone.0265772
    BACKGROUND: In recent years, emerging evidence has highlighted the role of vitamin D as an iron absorption enhancer by suppressing hepcidin concentration, albeit with an unclear underlying mechanism. Dietary-based approach in improving iron status has been widely practised, however, there is a scarcity in randomized controlled trials (RCT) to elucidate the effect of vitamin D-fortified juice on iron status recovery. Therefore, this study aims to investigate the effect of an 8-week vitamin D3-fortified fruit juice supplementation on iron status indicators in childbearing-aged women with marginally low iron stores.

    METHODS: In a placebo-controlled, double-blind, RCT, a total of 120 women aged between 19-40 with serum ferritin < 20 μg/l and fulfilled the eligibility criteria will be randomized into consuming either vitamin D3-fortified fruit juices containing 4000 IU (100 mcg) (vitamin D) or placebo-fruit juices (placebo) daily for eight weeks. At every 4-week interval, 10 ml fasting blood sample, information on dietary habit and anthropometric measurement will be collected. A mixed model repeated-measures analysis of variance will be performed to determine the effect of the intervention and the interaction with time points for all iron and vitamin D status blood biomarkers.

    DISCUSSION: Vitamin D supplementation in food fortification as a novel iron absorption enhancer might be a future and relevant alternative management of iron deficiency as opposed to the oral iron therapy that has poor adherence.

    TRIAL REGISTRATION: Clinicaltrials.gov: registration number NCT04618289, registration date October 28, 2020, protocol ID JKEUPM-2020-033.

    Matched MeSH terms: Anemia, Iron-Deficiency*
  19. Molecular Mechanisms of Vitamin E in Ocular Neurodegenerative Disorders: An Update on the Emerging Evidence and Therapeutic Implications
    Sadikan MZ, Lambuk L, Reshidan N, Ahmad Hairi H, Abd Ghapor AA, Mohamud R, et al.
    J Ocul Pharmacol Ther, 2025 Apr;41(3):89-100.
    PMID: 39778903 DOI: 10.1089/jop.2024.0125
    Vitamin E is renowned for its potent antioxidant properties, crucial for shielding cells against oxidative stress and damage. Deficiency in this vitamin can lead to various health issues, including neurodegenerative diseases, due to its pivotal role in preserving cell membrane integrity and combating cellular oxidative damage. While its importance for overall health, including neurodegeneration, is acknowledged, the specific correlation between vitamin E deficiency and distinct ocular neurodegenerative disorders need to be further explored. This review delves into the molecular mechanisms of vitamin E in ocular neurodegenerative disorders; diabetic retinopathy, age-related macular degeneration, glaucoma, and cataracts, and emphasising the therapeutic implications drawn from existing evidence. Relationship between vitamin E and ocular neurodegenerative disorders is widely researched on, with its primary protective mechanisms attributed to its antioxidant and anti-inflammatory properties. However, studies on the supplementation of vitamin E among human subjects present mixed results, suggesting its complexities and variability depending on factors such as the specific disorder, disease stage, genetic differences, and form of vitamin E utilized. In conclusion, while vitamin E holds promise in mitigating ocular neurodegeneration through its antioxidant and anti-inflammatory properties, its supplementation's efficacy remains nuanced and context dependent. More research works are essential to elucidate its precise role and therapeutic potential in combating various ocular neurodegenerative disorders.
    Matched MeSH terms: Vitamin E Deficiency/drug therapy
  20. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
    Bosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, et al.
    Sci Immunol, 2025 Jan 10;10(103):eadq1697.
    PMID: 39792639 DOI: 10.1126/sciimmunol.adq1697
    Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of RAG-mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic RAG variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons. T helper 2 (TH2) cell skewing and a prominent inflammatory signature characterize Omenn syndrome, whereas more hypomorphic forms of RAG deficiency are associated with a type 1 immune profile both in blood and tissues. We used cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) analysis to define the cell lineage-specific contribution to the immunopathology of the distinct RAG phenotypes. These insights may help improve the diagnosis and clinical management of the various forms of the disease.
    Matched MeSH terms: DNA-Binding Proteins/deficiency
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