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ALG9-congenital disorder of glycosylation

ALG9–congenital disorder of glycosylation (ALG9-CDG; historical CDG-IL) — Disease Characteristics Research Report

2026-05-11
Falcon MONDO:0012117 Model: Edison Scientific Literature 22 citations

ALG9–congenital disorder of glycosylation (ALG9-CDG; historical CDG-IL) — Disease Characteristics Research Report

Target disease

Executive summary

ALG9-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG9, which encodes an ER α1,2-mannosyltransferase required for stepwise assembly of the dolichol-linked oligosaccharide precursor for N-glycosylation. The disorder shows a broad phenotypic spectrum ranging from a liveborn multisystem neurodevelopmental disorder (developmental delay, hypotonia, seizures, progressive microcephaly, hepatomegaly; often renal cystic disease and pericardial effusion) to prenatal-lethal skeletal dysplasia with polycystic kidneys and multiple malformations (tham2016anovelphenotype pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2). Diagnostic hallmarks include type I transferrin isoelectric focusing abnormalities, accumulation of truncated lipid-linked oligosaccharide intermediates (DolPP-GlcNAc2Man6/Man8), and N-glycan profiling showing truncation with relative enrichment of smaller high-mannose species (Man4–Man6) and depletion of Man7–Man9 (frank2004identificationandfunctional pages 2-5, davis2017alg9cdgnewclinical pages 5-6).

Evidence map (structured summary)

Table (click to expand)
Disease / identifier Gene Inheritance Key pathogenic variant(s) reported Core phenotypes reported Biochemical / diagnostic findings Evidence type Year Key citation(s)
ALG9-congenital disorder of glycosylation; ALG9-CDG; former name CDG-IL ALG9 (alpha-1,2-mannosyltransferase) Autosomal recessive General disease definition; multiple homozygous variants across reports Multisystem N-glycosylation disorder with neurodevelopmental impairment and variable visceral involvement Type I CDG on transferrin isoelectric focusing; abnormal N-glycosylation due to defective dolichol-linked oligosaccharide assembly (frank2004identificationandfunctional pages 1-2, francisco2023congenitaldisordersof pages 1-2) Human disease definition / review 2004, 2023 (frank2004identificationandfunctional pages 1-2, francisco2023congenitaldisordersof pages 1-2)
Initial molecularly defined liveborn case ALG9 Autosomal recessive (homozygous variant) c.1567G>A, p.Glu523Lys (also described in secondary summaries as p.E523K) Developmental delay, central hypotonia, seizures, severe microcephaly, hepatomegaly, bronchial asthma Serum transferrin IEF: increased disialo- and asialo-transferrin consistent with CDG-I; fibroblast LLO accumulation of DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8; transfer of truncated glycans to protein; yeast complementation confirmed functional defect (frank2004identificationandfunctional pages 1-2, frank2004identificationandfunctional pages 2-5) Human case report with functional validation 2004 (frank2004identificationandfunctional pages 1-2, frank2004identificationandfunctional pages 2-5)
Second liveborn case expanding phenotype ALG9 Autosomal recessive (homozygous variant) c.860A>G, p.Tyr286Cys / p.Y286C Psychomotor retardation, seizures, hypotonia, diffuse cerebral and cerebellar atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, inverted nipples; progressive microcephaly later documented Typical CDG type I transferrin pattern by IEF; ALG9 defect suggested by DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8 accumulation; molecular confirmation by yeast complementation (weinstein2005cdg‐ilaninfant pages 1-2) Human case report 2005 (weinstein2005cdg‐ilaninfant pages 1-2)
Later liveborn case with glycomics confirmation ALG9 Autosomal recessive (homozygous variant; both parents carriers) c.860A>G, p.Tyr287Cys / p.Y287C Facial dysmorphism, CNS involvement, developmental delay, failure to thrive; MRI with moderate global cerebral atrophy; prenatal renal cysts/minor cardiac malformations reported in broader review of literature Transferrin IEF type I: decreased tetrasialo-Tf with increased disialo-Tf and small asialo-Tf; plasma and fibroblast LC-MS N-glycan profiling showed increased Man4-Man6 with absent/reduced Man7-Man9, consistent with ALG9 block (davis2017alg9cdgnewclinical pages 5-6, davis2017alg9cdgnewclinical media b6fa124e, davis2017alg9cdgnewclinical media 966d80b6) Human case report / glycomics 2017 (davis2017alg9cdgnewclinical pages 5-6, davis2017alg9cdgnewclinical media b6fa124e, davis2017alg9cdgnewclinical media 966d80b6)
Lethal fetal skeletal dysplasia / Gillessen-Kaesbach–Nishimura syndrome end of spectrum ALG9 Autosomal recessive (homozygous splice variant) c.1173+2T>A (reported as c.1173+2T4A in extracted text due to formatting), splice donor; exon 10 skipping Lethal fetal phenotype with skeletal dysplasia, polycystic kidneys, multiple malformations; characteristic round pelvis, mesomelic upper-limb shortening, defective cervical vertebral ossification; demonstrates severe prenatal end of ALG9-CDG spectrum Mass spectrometric transferrin analysis showed increased monoglycosylated transferrin, confirming CDG; RNA analysis demonstrated exon 10 skipping (tham2016anovelphenotype pages 1-2) Fetal pathology / exome / RNA study 2016 (tham2016anovelphenotype pages 1-2)
Saudi cohort / recurrent founder-like variant series ALG9 Autosomal recessive (all homozygous in this cohort) c.1075G>A, p.Glu359Lys / p.E359K Eight patients from four unrelated families: dysmorphic features, early-onset refractory epilepsy, progressive microcephaly, severe developmental disability, failure to thrive, skeletal dysplasia, mild hepatomegaly with normal transaminases, hydrops fetalis; brain MRI with delayed myelination and cerebral/cerebellar atrophy Clinical series emphasized phenotype; biochemical details not provided in extracted cohort text (alsubhi2017congenitaldisordersof pages 6-6) Human case series 2017 (alsubhi2017congenitaldisordersof pages 6-6)
Cross-report phenotype synthesis ALG9 Autosomal recessive Missense variants (p.Y286C/p.Y287C, p.E523K/p.E530K) generally associated with liveborn disease; splice variant c.1173+2T>A associated with prenatal lethal presentation; recurrent p.E359K in Saudi cohort Recurrent features across reports: neurodevelopmental delay/disability, hypotonia, seizures, progressive microcephaly, renal cysts/cystic kidneys, hepatomegaly, failure to thrive, pericardial effusion/cardiac tamponade, hydrops fetalis, and severe skeletal dysplasia/lethal fetal disease at the most severe end Core diagnostic signature across reports: abnormal transferrin glycoforms (type I pattern or increased monoglycosylated transferrin), truncated LLO intermediates (Man6/Man8), and glycomics showing buildup of shorter high-mannose species (Man4-6) with loss of Man7-9 (tham2016anovelphenotype pages 1-2, davis2017alg9cdgnewclinical pages 7-9, davis2017alg9cdgnewclinical pages 1-2) Human literature synthesis 2016–2017 (tham2016anovelphenotype pages 1-2, davis2017alg9cdgnewclinical pages 7-9, davis2017alg9cdgnewclinical pages 1-2)

Table: This table summarizes the main knowledge-base fields for ALG9-CDG/CDG-IL, including identifiers, inheritance, reported pathogenic variants, phenotype spectrum, and hallmark biochemical findings. It condenses the available human case reports, fetal pathology evidence, and broader literature synthesis into a citation-linked reference.

1. Disease information

1.1 What is the disease?

ALG9-CDG is a congenital disorder of N-linked glycosylation due to defective lipid-linked oligosaccharide (LLO) assembly in the endoplasmic reticulum, leading to transfer of incomplete glycan precursors to proteins and under-occupancy of N-glycosylation sites (a “CDG type I” biochemical pattern) (frank2004identificationandfunctional pages 1-2, frank2004identificationandfunctional pages 2-5).

1.2 Key identifiers (available from retrieved sources)

Not retrievable in this run (gaps needing external database lookup): OMIM disease number, Orphanet ID, ICD-10/ICD-11 code, MeSH, MONDO.

1.3 Synonyms / alternative names

  • ALG9-CDG
  • CDG-IL (historical subtype name)
  • In the fetal-lethal extreme: Gillessen-Kaesbach–Nishimura syndrome due to ALG9 variants (as framed by Tham et al.) (tham2016anovelphenotype pages 1-2)

1.4 Evidence source type

The currently retrievable evidence is primarily individual patients and small case series, including fetal autopsy/genomics studies and country-specific cohorts, rather than large aggregated natural-history datasets specific to ALG9-CDG (tham2016anovelphenotype pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6).

2. Etiology

2.1 Disease causal factors

2.2 Risk factors

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

No gene–environment interaction evidence specific to ALG9-CDG was identified in the retrieved sources.

3. Phenotypes

3.1 Phenotype spectrum (current understanding)

The phenotype spectrum spans: - Liveborn multisystem neurodevelopmental disease: developmental delay/psychomotor retardation, hypotonia, seizures/epilepsy, progressive microcephaly, failure to thrive, and hepatomegaly (frank2004identificationandfunctional pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6). - Renal phenotype: cystic kidneys/cystic renal disease and multiple small renal cysts (weinstein2005cdg‐ilaninfant pages 1-2, tham2016anovelphenotype pages 1-2). - Cardiac phenotype: pericardial effusion (including prenatal detection) and progression to cardiac tamponade in at least one reported infant (weinstein2005cdg‐ilaninfant pages 1-2). - Severe prenatal end: lethal fetal skeletal dysplasia with polycystic kidneys and multiple malformations (Gillessen-Kaesbach–Nishimura syndrome) (tham2016anovelphenotype pages 1-2).

3.2 Phenotype characteristics (onset, severity, progression)

  • Onset: often prenatal (hydrops fetalis; pericardial effusion; renal cysts detectable by fetal imaging) to early infancy (failure to thrive, hypotonia, seizures) (weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6).
  • Severity: ranges from survivable but severe neurodevelopmental disability to prenatal/neonatal lethality in the skeletal dysplasia phenotype (tham2016anovelphenotype pages 1-2).
  • Progression: progressive microcephaly has been emphasized in case reports/series; seizure control can be difficult (weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6).

3.3 Approximate frequency of features (from the retrieved evidence)

Formal pooled percentages for ALG9-CDG features were not extractable from the retrieved texts. However, a Saudi cohort described 8 patients from 4 unrelated families with a shared homozygous variant and recurrent features including refractory epilepsy, progressive microcephaly, skeletal dysplasia, and hydrops fetalis (alsubhi2017congenitaldisordersof pages 6-6).

3.4 Suggested HPO terms (non-exhaustive)

Based on the described phenotypes: - Seizures (HP:0001250) - Developmental delay / intellectual disability (HP:0001263 / HP:0001249) - Hypotonia (HP:0001252) - Progressive microcephaly / microcephaly (HP:0000252) - Failure to thrive (HP:0001508) - Hepatomegaly (HP:0002240) - Renal cysts / cystic kidney disease (HP:0000107) - Pericardial effusion (HP:0001698) - Hydrops fetalis (HP:0001789) - Skeletal dysplasia / limb shortening / mesomelia (e.g., HP:0002652; HP:0003027)

3.5 Quality-of-life impact

Direct validated quality-of-life instruments (e.g., EQ-5D, SF-36) were not found in the retrieved sources for ALG9-CDG. Nonetheless, severe developmental disability, refractory epilepsy, and multisystem involvement imply high caregiver burden and profound impairment in daily functioning (alsubhi2017congenitaldisordersof pages 6-6, weinstein2005cdg‐ilaninfant pages 1-2).

4. Genetic / molecular information

4.1 Causal gene

4.2 Pathogenic variants (from retrieved primary reports)

Reported homozygous variants include: - c.1567G>A (p.Glu523Lys / E523K) in the defining 2004 case (frank2004identificationandfunctional pages 2-5). - c.860A>G (p.Tyr286Cys / p.Y286C) in the 2005 case (weinstein2005cdg‐ilaninfant pages 1-2). - c.860A>G (p.Tyr287Cys / p.Y287C) in the 2017 case report with detailed glycomics (davis2017alg9cdgnewclinical pages 5-6). - c.1173+2T>A (splice donor; exon 10 skipping) associated with lethal fetal skeletal dysplasia (tham2016anovelphenotype pages 1-2). - c.1075G>A (p.Glu359Lys / p.E359K) in 8 Saudi patients (alsubhi2017congenitaldisordersof pages 6-6).

4.3 Variant type/class and functional consequences

  • Variants include missense substitutions and splice-site disruption causing exon skipping and predicted frameshift/out-of-frame transcript (tham2016anovelphenotype pages 1-2).
  • Functional validation in the defining work used yeast complementation, demonstrating that the patient allele impairs ALG9 function (residual activity noted), consistent with a loss-of-function/hypomorphic mechanism (frank2004identificationandfunctional pages 2-5).

4.4 Population allele frequency

One missense allele (Y287C) is described as very rare in population data (ExAC allele frequency reported in the 2017 review/case context), consistent with ultra-rare recessive disease (davis2017alg9cdgnewclinical pages 7-9).

4.5 Modifier genes / epigenetics / chromosomal abnormalities

No ALG9-CDG-specific modifier genes, epigenetic signatures, or recurrent chromosomal abnormalities were identified in the retrieved sources.

5. Environmental information

No environmental, lifestyle, toxin, radiation, or infectious triggers were identified as contributing factors in the retrieved evidence. ALG9-CDG is best supported as a primary monogenic disorder (frank2004identificationandfunctional pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2).

6. Mechanism / pathophysiology

6.1 Pathway placement and biochemical chain of causality

1) Primary trigger: biallelic pathogenic ALG9 variants (frank2004identificationandfunctional pages 2-5, tham2016anovelphenotype pages 1-2). 2) Molecular defect: reduced ALG9 α1,2-mannosyltransferase function during ER LLO assembly; human ALG9 catalyzes mannose transfer onto at least two acceptor substrates (DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8), consistent with dual-step involvement (frank2004identificationandfunctional pages 2-5). 3) Biochemical consequence: accumulation of truncated LLO intermediates (DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8) and transfer of incomplete precursors to protein N-glycosylation sites (frank2004identificationandfunctional pages 2-5). 4) Cellular consequence: protein underglycosylation and aberrant glycan structures can perturb ER quality control (calnexin/calreticulin cycle), glycoprotein folding/trafficking, and ER-associated degradation (ERAD), proposed as contributors to phenotype (frank2004identificationandfunctional pages 2-5). 5) Tissue/organ outcomes: multisystem developmental and organ dysfunction, with prominent neurologic involvement; renal cystic disease; cardiac involvement such as pericardial effusion; and, in severe fetal cases, skeletal dysplasia with visceral malformations (tham2016anovelphenotype pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2).

6.2 Direct abstract-quoted mechanistic evidence

  • Defining paper (2004) explicitly ties mechanism to LLO intermediates: it reports “a deficiency of the ALG9 α1,2 mannosyltransferase enzyme, which causes an accumulation of lipid-linked-GlcNAc2Man6 and -GlcNAc2Man8 structures” and notes this was “paralleled by the transfer of incomplete oligosaccharides precursors to protein” (frank2004identificationandfunctional pages 1-2).
  • 2017 case report glycomics: “N-glycan profile… showed significant increase…Man4…Man5…Man6 with absence of…Man7…Man8…Man9” and interprets “blockage of N-glycan biosynthesis after Man6 indicated a probable defect in ALG9” (davis2017alg9cdgnewclinical pages 5-6).
  • Fetal-lethal phenotype: “Mass spectrometric analysis showed an increase in monoglycosylated transferrin… confirming that this is a congenital disorder of glycosylation (CDG)” and “RNA analysis demonstrated skipping of exon 10” for the splice variant (tham2016anovelphenotype pages 1-2).

6.3 Ontology suggestions

6.4 Molecular profiling (omics)

Targeted N-glycan profiling by LC-MS in plasma and fibroblasts demonstrates a truncation signature (Man4–Man6 enrichment; Man7–Man9 depletion) consistent with pathway blockade at ALG9 (davis2017alg9cdgnewclinical pages 5-6).

7. Anatomical structures affected

7.1 Organ systems (supported by case literature)

7.2 UBERON suggestions (non-exhaustive)

  • Brain; kidney; liver; heart/pericardium; skeletal system (supported by multi-organ clinical findings) (tham2016anovelphenotype pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2).

7.3 Subcellular localization

Endoplasmic reticulum (ER) LLO assembly pathway (frank2004identificationandfunctional pages 2-5).

8. Temporal development

9. Inheritance and population

9.1 Inheritance

Autosomal recessive inheritance is supported by homozygous variants in affected children/fetuses and parental heterozygosity in families (davis2017alg9cdgnewclinical pages 5-6, weinstein2005cdg‐ilaninfant pages 1-2).

9.2 Epidemiology

ALG9-CDG is ultra-rare; early literature comprised a small number of families, but notable aggregation has been reported in regional cohorts. In a Saudi CDG cohort, ALG9-CDG accounted for 8 patients from 4 unrelated families, reported as 28.5% of the cohort’s CDG population (cohort composition rather than population prevalence) (alsubhi2017congenitaldisordersof pages 6-6). CDG-wide epidemiology reviews emphasize that generating robust prevalence/incidence data for CDG is challenging and often relies on case reports/series and allelic frequency, and also provide context that CDG are collectively rare inherited metabolic disorders (piedade2022epidemiologyofcongenital pages 1-2).

9.3 Population genetics

No robust carrier-frequency estimates for ALG9-CDG were extractable from the retrieved texts; one reported allele is extremely rare in population databases (ExAC) (davis2017alg9cdgnewclinical pages 7-9).

10. Diagnostics

10.1 Biochemical testing

Image evidence (real-world implementation of glycomics): Figures demonstrating the diagnostic N-glycan signature in plasma and fibroblasts are available from the 2017 clinical case report (davis2017alg9cdgnewclinical media b6fa124e, davis2017alg9cdgnewclinical media 966d80b6).

10.2 Genetic testing

10.3 Differential diagnosis

The fetal skeletal dysplasia phenotype overlaps with ALG3- and ALG12-CDG skeletal features, motivating a diagnostic grouping of certain N-glycosylation disorders within skeletal dysplasias (tham2016anovelphenotype pages 1-2).

11. Outcome / prognosis

Prognosis is variable: - Prenatal-lethal outcomes are documented for severe splice-variant-associated skeletal dysplasia with visceral malformations (tham2016anovelphenotype pages 1-2). - Survival with severe neurodevelopmental impairment is documented in liveborn cases; severe epilepsy and progressive microcephaly can occur, and cardiac tamponade secondary to pericardial effusion is a life-threatening complication (weinstein2005cdg‐ilaninfant pages 1-2).

Quantitative survival curves or life expectancy data were not available in the retrieved evidence.

12. Treatment

12.1 Disease-specific therapy

No ALG9-CDG-specific targeted therapy was identified in the retrieved sources.

12.2 Supportive/standard-of-care elements (real-world implementations)

  • Epilepsy management: antiepileptic therapy is used; seizure control may be difficult (weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6).
  • Management of pericardial effusion/tamponade: pericardiocentesis was required in at least one case due to tamponade (weinstein2005cdg‐ilaninfant pages 1-2).
  • Nutritional support / failure-to-thrive management: failure to thrive is prominent in reported cases and requires supportive care, although specific protocols were not detailed in the retrieved texts (weinstein2005cdg‐ilaninfant pages 1-2, alsubhi2017congenitaldisordersof pages 6-6).

12.3 CDG expert recommendations relevant to ALG9-CDG (2024)

A 2024 analysis from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) provides expert recommendations for baseline and longitudinal cardiac surveillance (echocardiogram and ECG at diagnosis; annual in early childhood with spacing later) due to cardiomyopathy/pericardial effusion risks in CDG broadly (zemet2024cardiomyopathyanuncommon pages 1-3). While ALG9-CDG was not among the cardiomyopathy cases listed, pericardial effusion is clearly part of ALG9-CDG phenotypes, making structured cardiac surveillance clinically prudent (weinstein2005cdg‐ilaninfant pages 1-2, zemet2024cardiomyopathyanuncommon pages 1-3).

12.4 Suggested MAXO terms (examples)

  • Antiepileptic drug therapy (MAXO: antiepileptic therapy)
  • Pericardiocentesis / pericardial drainage procedure
  • Nutritional support / enteral nutrition
  • Cardiac surveillance (echocardiography; electrocardiography)

13. Prevention

No primary prevention is currently established for ALG9-CDG. Prevention focuses on genetic counseling and reproductive options: - Carrier testing and cascade testing in families with a known pathogenic variant. - Prenatal diagnosis is feasible (fetal ultrasound findings plus molecular testing), and fetal presentation has been described for severe cases (tham2016anovelphenotype pages 1-2, weinstein2005cdg‐ilaninfant pages 1-2).

14. Other species / natural disease

No naturally occurring ALG9-CDG-like disease in non-human species was identified in the retrieved evidence.

15. Model organisms

15.1 Functional models used in the evidence base

  • Yeast complementation assays were used to demonstrate functional homology between human and yeast ALG9 and the deleterious effect of patient variants, providing strong mechanistic support (frank2004identificationandfunctional pages 2-5).

15.2 Translational relevance and limitations

Yeast assays robustly establish enzymatic pathway function and variant impact but do not recapitulate the multi-organ developmental phenotypes; vertebrate models were not retrieved in this run.

Recent developments (2023–2024 prioritized)

2023: CDG field state-of-the-art (context relevant to ALG9-CDG)

A 2023 “state of the art in 2022” review emphasizes that CDG are a heterogeneous family of rare metabolic diseases and highlights that multi-omics advances have accelerated progress but targeted therapies remain a major unmet need; it also documents the modern gene-based nomenclature and challenges in CDG classification (francisco2023congenitaldisordersof pages 1-2).

2024: Expert guidance on cardiac monitoring in CDG

A 2024 FCDGC study identified cardiomyopathy in approximately ~6% of 305 molecularly confirmed CDG patients in their cohort and proposed standardized cardiac screening/follow-up (zemet2024cardiomyopathyanuncommon pages 1-3). Even though ALG9-CDG was not specifically represented among their cardiomyopathy subset, the presence of pericardial effusion/tamponade in ALG9-CDG case reports supports heightened cardiac vigilance (weinstein2005cdg‐ilaninfant pages 1-2).

URLs and publication dates (where available from retrieved texts)

Limitations of this report (important for knowledge-base curation)

1) Ontology IDs (OMIM/Orphanet/MONDO/ICD/MeSH) and PMIDs were not retrievable with the available tools in this run; the report therefore prioritizes DOI/URLs and direct excerpts from accessible full text. 2) ALG9-CDG remains ultra-rare; feature frequencies, survival statistics, and validated QoL metrics are not well defined in the retrieved primary literature. 3) ALG9-specific 2023–2024 primary case expansions were not retrievable here; “latest research” sections therefore focus on CDG-wide advances and consensus recommendations.

References

  1. (frank2004identificationandfunctional pages 1-2): Christian G. Frank, Wafaa Eyaid, Eric G. Berger, Markus Aebi, Claudia E. Grubenmann, and Thierry Hennet. Identification and functional analysis of a defect in the human alg9 gene: definition of congenital disorder of glycosylation type il. The American Journal of Human Genetics, 75:146-150, Jul 2004. URL: https://doi.org/10.1086/422367, doi:10.1086/422367. This article has 117 citations.

  2. (davis2017alg9cdgnewclinical pages 5-6): Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, and Walla Al-Hertani. Alg9-cdg: new clinical case and review of the literature. Molecular Genetics and Metabolism Reports, 13:55-63, Dec 2017. URL: https://doi.org/10.1016/j.ymgmr.2017.08.004, doi:10.1016/j.ymgmr.2017.08.004. This article has 29 citations.

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